SNP Links for Protein (Select 330864720) - SNP

Links from Protein

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Select item 14908405451.

rs1490840545 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:5763638 (GRCh38)
9:5763638 (GRCh37)
Canonical SPDI:: NC_000009.12:5763637:G:A
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5763638G>A, NC_000009.11:g.5763638G>A, NM_020829.4:c.2611G>A, NM_020829.3:c.2611G>A, XM_005251523.4:c.2608G>A, XM_005251523.3:c.2608G>A, XM_005251523.2:c.2608G>A, XM_005251523.1:c.2608G>A, XR_428426.4:n.2814G>A, XR_428426.3:n.2891G>A, XR_428426.2:n.2891G>A, XR_428426.1:n.2890G>A, NM_001135920.4:c.2611G>A, NM_001135920.3:c.2611G>A, NM_001135920.2:c.2611G>A, XM_011517967.3:c.1678G>A, XM_011517967.2:c.1678G>A, XM_011517967.1:c.1678G>A, XM_011517968.3:c.1000G>A, XM_011517968.2:c.1000G>A, XM_011517968.1:c.1000G>A, XM_017014935.2:c.2266G>A, XM_017014935.1:c.2266G>A, NM_001206557.2:c.2500G>A, NM_001206557.1:c.2500G>A, XM_017014934.2:c.2266G>A, XM_017014934.1:c.2266G>A, XM_017014936.2:c.2266G>A, XM_017014936.1:c.2266G>A, XM_047423610.1:c.2155G>A, XM_047423609.1:c.2497G>A, XR_007061330.1:n.2811G>A, XR_007061331.1:n.2703G>A, XR_007061332.1:n.2700G>A, XM_047423611.1:c.1000G>A, NP_065880.2:p.Glu871Lys, XP_005251580.1:p.Glu870Lys, NP_001129392.2:p.Glu871Lys, XP_011516269.1:p.Glu560Lys, XP_011516270.1:p.Glu334Lys, XP_016870424.1:p.Glu756Lys, NP_001193486.1:p.Glu834Lys, XP_016870423.1:p.Glu756Lys, XP_016870425.1:p.Glu756Lys, XP_047279566.1:p.Glu719Lys, XP_047279565.1:p.Glu833Lys, XP_047279567.1:p.Glu334Lys

Select item 14897930172.

rs1489793017 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:5773023 (GRCh38)
9:5773023 (GRCh37)
Canonical SPDI:: NC_000009.12:5773022:T:C
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5773023T>C, NC_000009.11:g.5773023T>C, NM_020829.4:c.3926T>C, NM_020829.3:c.3926T>C, XM_005251523.4:c.3923T>C, XM_005251523.3:c.3923T>C, XM_005251523.2:c.3923T>C, XM_005251523.1:c.3923T>C, XR_428426.4:n.4129T>C, XR_428426.3:n.4206T>C, XR_428426.2:n.4206T>C, XR_428426.1:n.4205T>C, XM_011517967.3:c.2993T>C, XM_011517967.2:c.2993T>C, XM_011517967.1:c.2993T>C, XM_011517968.3:c.2315T>C, XM_011517968.2:c.2315T>C, XM_011517968.1:c.2315T>C, XM_017014935.2:c.3581T>C, XM_017014935.1:c.3581T>C, NM_001206557.2:c.3815T>C, NM_001206557.1:c.3815T>C, XM_017014934.2:c.3581T>C, XM_017014934.1:c.3581T>C, XM_017014936.2:c.3581T>C, XM_017014936.1:c.3581T>C, XM_047423610.1:c.3470T>C, XM_047423609.1:c.3812T>C, XR_007061330.1:n.4126T>C, XR_007061331.1:n.4018T>C, XR_007061332.1:n.4015T>C, XM_047423611.1:c.2315T>C, NP_065880.2:p.Met1309Thr, XP_005251580.1:p.Met1308Thr, XP_011516269.1:p.Met998Thr, XP_011516270.1:p.Met772Thr, XP_016870424.1:p.Met1194Thr, NP_001193486.1:p.Met1272Thr, XP_016870423.1:p.Met1194Thr, XP_016870425.1:p.Met1194Thr, XP_047279566.1:p.Met1157Thr, XP_047279565.1:p.Met1271Thr, XP_047279567.1:p.Met772Thr

Select item 14894999273.

rs1489499927 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:5745964 (GRCh38)
9:5745964 (GRCh37)
Canonical SPDI:: NC_000009.12:5745963:A:G
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.5745964A>G, NC_000009.11:g.5745964A>G, NM_020829.4:c.1129A>G, NM_020829.3:c.1129A>G, XM_005251523.4:c.1126A>G, XM_005251523.3:c.1126A>G, XM_005251523.2:c.1126A>G, XM_005251523.1:c.1126A>G, XR_428426.4:n.1332A>G, XR_428426.3:n.1409A>G, XR_428426.2:n.1409A>G, XR_428426.1:n.1408A>G, NM_001135920.4:c.1129A>G, NM_001135920.3:c.1129A>G, NM_001135920.2:c.1129A>G, XM_011517967.3:c.196A>G, XM_011517967.2:c.196A>G, XM_011517967.1:c.196A>G, XM_017014935.2:c.784A>G, XM_017014935.1:c.784A>G, NM_001206557.2:c.1129A>G, NM_001206557.1:c.1129A>G, XM_017014934.2:c.784A>G, XM_017014934.1:c.784A>G, XM_017014936.2:c.784A>G, XM_017014936.1:c.784A>G, XM_047423610.1:c.784A>G, XM_047423609.1:c.1126A>G, XR_007061330.1:n.1329A>G, XR_007061331.1:n.1332A>G, XR_007061332.1:n.1329A>G, NP_065880.2:p.Ile377Val, XP_005251580.1:p.Ile376Val, NP_001129392.2:p.Ile377Val, XP_011516269.1:p.Ile66Val, XP_016870424.1:p.Ile262Val, NP_001193486.1:p.Ile377Val, XP_016870423.1:p.Ile262Val, XP_016870425.1:p.Ile262Val, XP_047279566.1:p.Ile262Val, XP_047279565.1:p.Ile376Val

Select item 14891211774.

rs1489121177 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:5772724 (GRCh38)
9:5772724 (GRCh37)
Canonical SPDI:: NC_000009.12:5772723:A:G
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant,non_coding_transcript_variant,genic_downstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
HGVS:: NC_000009.12:g.5772724A>G, NC_000009.11:g.5772724A>G, NM_020829.4:c.3777A>G, NM_020829.3:c.3777A>G, XM_005251523.4:c.3774A>G, XM_005251523.3:c.3774A>G, XM_005251523.2:c.3774A>G, XM_005251523.1:c.3774A>G, XR_428426.4:n.3980A>G, XR_428426.3:n.4057A>G, XR_428426.2:n.4057A>G, XR_428426.1:n.4056A>G, XM_011517967.3:c.2844A>G, XM_011517967.2:c.2844A>G, XM_011517967.1:c.2844A>G, XM_011517968.3:c.2166A>G, XM_011517968.2:c.2166A>G, XM_011517968.1:c.2166A>G, XM_017014935.2:c.3432A>G, XM_017014935.1:c.3432A>G, NM_001206557.2:c.3666A>G, NM_001206557.1:c.3666A>G, XM_017014934.2:c.3432A>G, XM_017014934.1:c.3432A>G, XM_017014936.2:c.3432A>G, XM_017014936.1:c.3432A>G, XM_047423610.1:c.3321A>G, XM_047423609.1:c.3663A>G, XR_007061330.1:n.3977A>G, XR_007061331.1:n.3869A>G, XR_007061332.1:n.3866A>G, XM_047423611.1:c.2166A>G

Select item 14886798815.

rs1488679881 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:5774205 (GRCh38)
9:5774205 (GRCh37)
Canonical SPDI:: NC_000009.12:5774204:G:A,NC_000009.12:5774204:G:C
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
C=0.000019/5 (TOPMED)
C=0.001416/24 (TOMMO)
HGVS:: NC_000009.12:g.5774205G>A, NC_000009.12:g.5774205G>C, NC_000009.11:g.5774205G>A, NC_000009.11:g.5774205G>C, NM_020829.4:c.4231G>A, NM_020829.4:c.4231G>C, NM_020829.3:c.4231G>A, NM_020829.3:c.4231G>C, XM_005251523.4:c.4228G>A, XM_005251523.4:c.4228G>C, XM_005251523.3:c.4228G>A, XM_005251523.3:c.4228G>C, XM_005251523.2:c.4228G>A, XM_005251523.2:c.4228G>C, XM_005251523.1:c.4228G>A, XM_005251523.1:c.4228G>C, XR_428426.4:n.4434G>A, XR_428426.4:n.4434G>C, XR_428426.3:n.4511G>A, XR_428426.3:n.4511G>C, XR_428426.2:n.4511G>A, XR_428426.2:n.4511G>C, XR_428426.1:n.4510G>A, XR_428426.1:n.4510G>C, XM_011517967.3:c.3298G>A, XM_011517967.3:c.3298G>C, XM_011517967.2:c.3298G>A, XM_011517967.2:c.3298G>C, XM_011517967.1:c.3298G>A, XM_011517967.1:c.3298G>C, XM_011517968.3:c.2620G>A, XM_011517968.3:c.2620G>C, XM_011517968.2:c.2620G>A, XM_011517968.2:c.2620G>C, XM_011517968.1:c.2620G>A, XM_011517968.1:c.2620G>C, XM_017014935.2:c.3886G>A, XM_017014935.2:c.3886G>C, XM_017014935.1:c.3886G>A, XM_017014935.1:c.3886G>C, NM_001206557.2:c.4120G>A, NM_001206557.2:c.4120G>C, NM_001206557.1:c.4120G>A, NM_001206557.1:c.4120G>C, XM_017014934.2:c.3886G>A, XM_017014934.2:c.3886G>C, XM_017014934.1:c.3886G>A, XM_017014934.1:c.3886G>C, XM_017014936.2:c.3886G>A, XM_017014936.2:c.3886G>C, XM_017014936.1:c.3886G>A, XM_017014936.1:c.3886G>C, XM_047423610.1:c.3775G>A, XM_047423610.1:c.3775G>C, XM_047423609.1:c.4117G>A, XM_047423609.1:c.4117G>C, XR_007061330.1:n.4431G>A, XR_007061330.1:n.4431G>C, XR_007061331.1:n.4323G>A, XR_007061331.1:n.4323G>C, XR_007061332.1:n.4320G>A, XR_007061332.1:n.4320G>C, XM_047423611.1:c.2620G>A, XM_047423611.1:c.2620G>C, NP_065880.2:p.Glu1411Lys, NP_065880.2:p.Glu1411Gln, XP_005251580.1:p.Glu1410Lys, XP_005251580.1:p.Glu1410Gln, XP_011516269.1:p.Glu1100Lys, XP_011516269.1:p.Glu1100Gln, XP_011516270.1:p.Glu874Lys, XP_011516270.1:p.Glu874Gln, XP_016870424.1:p.Glu1296Lys, XP_016870424.1:p.Glu1296Gln, NP_001193486.1:p.Glu1374Lys, NP_001193486.1:p.Glu1374Gln, XP_016870423.1:p.Glu1296Lys, XP_016870423.1:p.Glu1296Gln, XP_016870425.1:p.Glu1296Lys, XP_016870425.1:p.Glu1296Gln, XP_047279566.1:p.Glu1259Lys, XP_047279566.1:p.Glu1259Gln, XP_047279565.1:p.Glu1373Lys, XP_047279565.1:p.Glu1373Gln, XP_047279567.1:p.Glu874Lys, XP_047279567.1:p.Glu874Gln

Select item 14885793786.

rs1488579378 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G,T [Show Flanks]
Chromosome:: 9:5763435 (GRCh38)
9:5763435 (GRCh37)
Canonical SPDI:: NC_000009.12:5763434:C:G,NC_000009.12:5763434:C:T
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5763435C>G, NC_000009.12:g.5763435C>T, NC_000009.11:g.5763435C>G, NC_000009.11:g.5763435C>T, NM_020829.4:c.2408C>G, NM_020829.4:c.2408C>T, NM_020829.3:c.2408C>G, NM_020829.3:c.2408C>T, XM_005251523.4:c.2405C>G, XM_005251523.4:c.2405C>T, XM_005251523.3:c.2405C>G, XM_005251523.3:c.2405C>T, XM_005251523.2:c.2405C>G, XM_005251523.2:c.2405C>T, XM_005251523.1:c.2405C>G, XM_005251523.1:c.2405C>T, XR_428426.4:n.2611C>G, XR_428426.4:n.2611C>T, XR_428426.3:n.2688C>G, XR_428426.3:n.2688C>T, XR_428426.2:n.2688C>G, XR_428426.2:n.2688C>T, XR_428426.1:n.2687C>G, XR_428426.1:n.2687C>T, NM_001135920.4:c.2408C>G, NM_001135920.4:c.2408C>T, NM_001135920.3:c.2408C>G, NM_001135920.3:c.2408C>T, NM_001135920.2:c.2408C>G, NM_001135920.2:c.2408C>T, XM_011517967.3:c.1475C>G, XM_011517967.3:c.1475C>T, XM_011517967.2:c.1475C>G, XM_011517967.2:c.1475C>T, XM_011517967.1:c.1475C>G, XM_011517967.1:c.1475C>T, XM_011517968.3:c.797C>G, XM_011517968.3:c.797C>T, XM_011517968.2:c.797C>G, XM_011517968.2:c.797C>T, XM_011517968.1:c.797C>G, XM_011517968.1:c.797C>T, XM_017014935.2:c.2063C>G, XM_017014935.2:c.2063C>T, XM_017014935.1:c.2063C>G, XM_017014935.1:c.2063C>T, NM_001206557.2:c.2297C>G, NM_001206557.2:c.2297C>T, NM_001206557.1:c.2297C>G, NM_001206557.1:c.2297C>T, XM_017014934.2:c.2063C>G, XM_017014934.2:c.2063C>T, XM_017014934.1:c.2063C>G, XM_017014934.1:c.2063C>T, XM_017014936.2:c.2063C>G, XM_017014936.2:c.2063C>T, XM_017014936.1:c.2063C>G, XM_017014936.1:c.2063C>T, XM_047423610.1:c.1952C>G, XM_047423610.1:c.1952C>T, XM_047423609.1:c.2294C>G, XM_047423609.1:c.2294C>T, XR_007061330.1:n.2608C>G, XR_007061330.1:n.2608C>T, XR_007061331.1:n.2500C>G, XR_007061331.1:n.2500C>T, XR_007061332.1:n.2497C>G, XR_007061332.1:n.2497C>T, XM_047423611.1:c.797C>G, XM_047423611.1:c.797C>T, NP_065880.2:p.Thr803Ser, NP_065880.2:p.Thr803Ile, XP_005251580.1:p.Thr802Ser, XP_005251580.1:p.Thr802Ile, NP_001129392.2:p.Thr803Ser, NP_001129392.2:p.Thr803Ile, XP_011516269.1:p.Thr492Ser, XP_011516269.1:p.Thr492Ile, XP_011516270.1:p.Thr266Ser, XP_011516270.1:p.Thr266Ile, XP_016870424.1:p.Thr688Ser, XP_016870424.1:p.Thr688Ile, NP_001193486.1:p.Thr766Ser, NP_001193486.1:p.Thr766Ile, XP_016870423.1:p.Thr688Ser, XP_016870423.1:p.Thr688Ile, XP_016870425.1:p.Thr688Ser, XP_016870425.1:p.Thr688Ile, XP_047279566.1:p.Thr651Ser, XP_047279566.1:p.Thr651Ile, XP_047279565.1:p.Thr765Ser, XP_047279565.1:p.Thr765Ile, XP_047279567.1:p.Thr266Ser, XP_047279567.1:p.Thr266Ile

Select item 14875900077.

rs1487590007 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:5738525 (GRCh38)
9:5738525 (GRCh37)
Canonical SPDI:: NC_000009.12:5738524:A:G
Gene:: RIC1 (Varview)
Functional Consequence:: intron_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: G=0.000047/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5738525A>G, NC_000009.11:g.5738525A>G, NM_020829.4:c.888A>G, NM_020829.3:c.888A>G, XM_005251523.4:c.885A>G, XM_005251523.3:c.885A>G, XM_005251523.2:c.885A>G, XM_005251523.1:c.885A>G, XR_428426.4:n.1091A>G, XR_428426.3:n.1168A>G, XR_428426.2:n.1168A>G, XR_428426.1:n.1167A>G, NM_001135920.4:c.888A>G, NM_001135920.3:c.888A>G, NM_001135920.2:c.888A>G, XM_017014935.2:c.543A>G, XM_017014935.1:c.543A>G, NM_001206557.2:c.888A>G, NM_001206557.1:c.888A>G, XM_017014934.2:c.543A>G, XM_017014934.1:c.543A>G, XM_017014936.2:c.543A>G, XM_017014936.1:c.543A>G, XM_047423610.1:c.543A>G, XM_047423609.1:c.885A>G, XR_007061330.1:n.1088A>G, XR_007061331.1:n.1091A>G, XR_007061332.1:n.1088A>G

Select item 14873550718.

rs1487355071 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:5720317 (GRCh38)
9:5720317 (GRCh37)
Canonical SPDI:: NC_000009.12:5720316:A:G
Gene:: RIC1 (Varview), LOC124902115 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant,2KB_upstream_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0./0 (GnomAD)
G=0.000004/1 (TOPMED)
G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5720317A>G, NC_000009.11:g.5720317A>G, NM_020829.4:c.576A>G, NM_020829.3:c.576A>G, XM_005251523.4:c.576A>G, XM_005251523.3:c.576A>G, XM_005251523.2:c.576A>G, XM_005251523.1:c.576A>G, XR_428426.4:n.779A>G, XR_428426.3:n.856A>G, XR_428426.2:n.856A>G, XR_428426.1:n.855A>G, NM_001135920.4:c.576A>G, NM_001135920.3:c.576A>G, NM_001135920.2:c.576A>G, XM_017014935.2:c.231A>G, XM_017014935.1:c.231A>G, NM_001206557.2:c.576A>G, NM_001206557.1:c.576A>G, XM_017014934.2:c.231A>G, XM_017014934.1:c.231A>G, XM_017014936.2:c.231A>G, XM_017014936.1:c.231A>G, XM_047423610.1:c.231A>G, XM_047423609.1:c.576A>G, XR_007061330.1:n.779A>G, XR_007061331.1:n.779A>G, XR_007061332.1:n.779A>G

Select item 14871980199.

rs1487198019 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:5772944 (GRCh38)
9:5772944 (GRCh37)
Canonical SPDI:: NC_000009.12:5772943:A:T
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5772944A>T, NC_000009.11:g.5772944A>T, NM_020829.4:c.3847A>T, NM_020829.3:c.3847A>T, XM_005251523.4:c.3844A>T, XM_005251523.3:c.3844A>T, XM_005251523.2:c.3844A>T, XM_005251523.1:c.3844A>T, XR_428426.4:n.4050A>T, XR_428426.3:n.4127A>T, XR_428426.2:n.4127A>T, XR_428426.1:n.4126A>T, XM_011517967.3:c.2914A>T, XM_011517967.2:c.2914A>T, XM_011517967.1:c.2914A>T, XM_011517968.3:c.2236A>T, XM_011517968.2:c.2236A>T, XM_011517968.1:c.2236A>T, XM_017014935.2:c.3502A>T, XM_017014935.1:c.3502A>T, NM_001206557.2:c.3736A>T, NM_001206557.1:c.3736A>T, XM_017014934.2:c.3502A>T, XM_017014934.1:c.3502A>T, XM_017014936.2:c.3502A>T, XM_017014936.1:c.3502A>T, XM_047423610.1:c.3391A>T, XM_047423609.1:c.3733A>T, XR_007061330.1:n.4047A>T, XR_007061331.1:n.3939A>T, XR_007061332.1:n.3936A>T, XM_047423611.1:c.2236A>T, NP_065880.2:p.Ile1283Leu, XP_005251580.1:p.Ile1282Leu, XP_011516269.1:p.Ile972Leu, XP_011516270.1:p.Ile746Leu, XP_016870424.1:p.Ile1168Leu, NP_001193486.1:p.Ile1246Leu, XP_016870423.1:p.Ile1168Leu, XP_016870425.1:p.Ile1168Leu, XP_047279566.1:p.Ile1131Leu, XP_047279565.1:p.Ile1245Leu, XP_047279567.1:p.Ile746Leu

Select item 148719762910.

rs1487197629 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 9:5774046 (GRCh38)
9:5774046 (GRCh37)
Canonical SPDI:: NC_000009.12:5774045:T:C
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5774046T>C, NC_000009.11:g.5774046T>C, NM_020829.4:c.4072T>C, NM_020829.3:c.4072T>C, XM_005251523.4:c.4069T>C, XM_005251523.3:c.4069T>C, XM_005251523.2:c.4069T>C, XM_005251523.1:c.4069T>C, XR_428426.4:n.4275T>C, XR_428426.3:n.4352T>C, XR_428426.2:n.4352T>C, XR_428426.1:n.4351T>C, XM_011517967.3:c.3139T>C, XM_011517967.2:c.3139T>C, XM_011517967.1:c.3139T>C, XM_011517968.3:c.2461T>C, XM_011517968.2:c.2461T>C, XM_011517968.1:c.2461T>C, XM_017014935.2:c.3727T>C, XM_017014935.1:c.3727T>C, NM_001206557.2:c.3961T>C, NM_001206557.1:c.3961T>C, XM_017014934.2:c.3727T>C, XM_017014934.1:c.3727T>C, XM_017014936.2:c.3727T>C, XM_017014936.1:c.3727T>C, XM_047423610.1:c.3616T>C, XM_047423609.1:c.3958T>C, XR_007061330.1:n.4272T>C, XR_007061331.1:n.4164T>C, XR_007061332.1:n.4161T>C, XM_047423611.1:c.2461T>C, NP_065880.2:p.Phe1358Leu, XP_005251580.1:p.Phe1357Leu, XP_011516269.1:p.Phe1047Leu, XP_011516270.1:p.Phe821Leu, XP_016870424.1:p.Phe1243Leu, NP_001193486.1:p.Phe1321Leu, XP_016870423.1:p.Phe1243Leu, XP_016870425.1:p.Phe1243Leu, XP_047279566.1:p.Phe1206Leu, XP_047279565.1:p.Phe1320Leu, XP_047279567.1:p.Phe821Leu

Select item 148661814211.

rs1486618142 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,T [Show Flanks]
Chromosome:: 9:5757377 (GRCh38)
9:5757377 (GRCh37)
Canonical SPDI:: NC_000009.12:5757376:C:A,NC_000009.12:5757376:C:T
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5757377C>A, NC_000009.12:g.5757377C>T, NC_000009.11:g.5757377C>A, NC_000009.11:g.5757377C>T, NM_020829.4:c.1918C>A, NM_020829.4:c.1918C>T, NM_020829.3:c.1918C>A, NM_020829.3:c.1918C>T, XM_005251523.4:c.1915C>A, XM_005251523.4:c.1915C>T, XM_005251523.3:c.1915C>A, XM_005251523.3:c.1915C>T, XM_005251523.2:c.1915C>A, XM_005251523.2:c.1915C>T, XM_005251523.1:c.1915C>A, XM_005251523.1:c.1915C>T, XR_428426.4:n.2121C>A, XR_428426.4:n.2121C>T, XR_428426.3:n.2198C>A, XR_428426.3:n.2198C>T, XR_428426.2:n.2198C>A, XR_428426.2:n.2198C>T, XR_428426.1:n.2197C>A, XR_428426.1:n.2197C>T, NM_001135920.4:c.1918C>A, NM_001135920.4:c.1918C>T, NM_001135920.3:c.1918C>A, NM_001135920.3:c.1918C>T, NM_001135920.2:c.1918C>A, NM_001135920.2:c.1918C>T, XM_011517967.3:c.985C>A, XM_011517967.3:c.985C>T, XM_011517967.2:c.985C>A, XM_011517967.2:c.985C>T, XM_011517967.1:c.985C>A, XM_011517967.1:c.985C>T, XM_011517968.3:c.307C>A, XM_011517968.3:c.307C>T, XM_011517968.2:c.307C>A, XM_011517968.2:c.307C>T, XM_011517968.1:c.307C>A, XM_011517968.1:c.307C>T, XM_017014935.2:c.1573C>A, XM_017014935.2:c.1573C>T, XM_017014935.1:c.1573C>A, XM_017014935.1:c.1573C>T, NM_001206557.2:c.1807C>A, NM_001206557.2:c.1807C>T, NM_001206557.1:c.1807C>A, NM_001206557.1:c.1807C>T, XM_017014934.2:c.1573C>A, XM_017014934.2:c.1573C>T, XM_017014934.1:c.1573C>A, XM_017014934.1:c.1573C>T, XM_017014936.2:c.1573C>A, XM_017014936.2:c.1573C>T, XM_017014936.1:c.1573C>A, XM_017014936.1:c.1573C>T, XM_047423610.1:c.1462C>A, XM_047423610.1:c.1462C>T, XM_047423609.1:c.1804C>A, XM_047423609.1:c.1804C>T, XR_007061330.1:n.2118C>A, XR_007061330.1:n.2118C>T, XR_007061331.1:n.2010C>A, XR_007061331.1:n.2010C>T, XR_007061332.1:n.2007C>A, XR_007061332.1:n.2007C>T, XM_047423611.1:c.307C>A, XM_047423611.1:c.307C>T, NP_065880.2:p.Pro640Thr, NP_065880.2:p.Pro640Ser, XP_005251580.1:p.Pro639Thr, XP_005251580.1:p.Pro639Ser, NP_001129392.2:p.Pro640Thr, NP_001129392.2:p.Pro640Ser, XP_011516269.1:p.Pro329Thr, XP_011516269.1:p.Pro329Ser, XP_011516270.1:p.Pro103Thr, XP_011516270.1:p.Pro103Ser, XP_016870424.1:p.Pro525Thr, XP_016870424.1:p.Pro525Ser, NP_001193486.1:p.Pro603Thr, NP_001193486.1:p.Pro603Ser, XP_016870423.1:p.Pro525Thr, XP_016870423.1:p.Pro525Ser, XP_016870425.1:p.Pro525Thr, XP_016870425.1:p.Pro525Ser, XP_047279566.1:p.Pro488Thr, XP_047279566.1:p.Pro488Ser, XP_047279565.1:p.Pro602Thr, XP_047279565.1:p.Pro602Ser, XP_047279567.1:p.Pro103Thr, XP_047279567.1:p.Pro103Ser

Select item 148636103812.

rs1486361038 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:5774034 (GRCh38)
9:5774034 (GRCh37)
Canonical SPDI:: NC_000009.12:5774033:C:G
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,genic_downstream_transcript_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5774034C>G, NC_000009.11:g.5774034C>G, NM_020829.4:c.4060C>G, NM_020829.3:c.4060C>G, XM_005251523.4:c.4057C>G, XM_005251523.3:c.4057C>G, XM_005251523.2:c.4057C>G, XM_005251523.1:c.4057C>G, XR_428426.4:n.4263C>G, XR_428426.3:n.4340C>G, XR_428426.2:n.4340C>G, XR_428426.1:n.4339C>G, XM_011517967.3:c.3127C>G, XM_011517967.2:c.3127C>G, XM_011517967.1:c.3127C>G, XM_011517968.3:c.2449C>G, XM_011517968.2:c.2449C>G, XM_011517968.1:c.2449C>G, XM_017014935.2:c.3715C>G, XM_017014935.1:c.3715C>G, NM_001206557.2:c.3949C>G, NM_001206557.1:c.3949C>G, XM_017014934.2:c.3715C>G, XM_017014934.1:c.3715C>G, XM_017014936.2:c.3715C>G, XM_017014936.1:c.3715C>G, XM_047423610.1:c.3604C>G, XM_047423609.1:c.3946C>G, XR_007061330.1:n.4260C>G, XR_007061331.1:n.4152C>G, XR_007061332.1:n.4149C>G, XM_047423611.1:c.2449C>G, NP_065880.2:p.Gln1354Glu, XP_005251580.1:p.Gln1353Glu, XP_011516269.1:p.Gln1043Glu, XP_011516270.1:p.Gln817Glu, XP_016870424.1:p.Gln1239Glu, NP_001193486.1:p.Gln1317Glu, XP_016870423.1:p.Gln1239Glu, XP_016870425.1:p.Gln1239Glu, XP_047279566.1:p.Gln1202Glu, XP_047279565.1:p.Gln1316Glu, XP_047279567.1:p.Gln817Glu

Select item 148577720413.

rs1485777204 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 9:5629370 (GRCh38)
9:5629370 (GRCh37)
Canonical SPDI:: NC_000009.12:5629369:G:T
Gene:: RIC1 (Varview), LOC124902114 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: T=0.000015/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5629370G>T, NC_000009.11:g.5629370G>T, NM_020829.4:c.61G>T, NM_020829.3:c.61G>T, XM_005251523.4:c.61G>T, XM_005251523.3:c.61G>T, XM_005251523.2:c.61G>T, XM_005251523.1:c.61G>T, XR_428426.4:n.264G>T, XR_428426.3:n.341G>T, XR_428426.2:n.341G>T, XR_428426.1:n.340G>T, NM_001135920.4:c.61G>T, NM_001135920.3:c.61G>T, NM_001135920.2:c.61G>T, NM_001206557.2:c.61G>T, NM_001206557.1:c.61G>T, XM_047423609.1:c.61G>T, XR_007061330.1:n.264G>T, XR_007061331.1:n.264G>T, XR_007061332.1:n.264G>T, NP_065880.2:p.Ala21Ser, XP_005251580.1:p.Ala21Ser, NP_001129392.2:p.Ala21Ser, NP_001193486.1:p.Ala21Ser, XP_047279565.1:p.Ala21Ser

Select item 148533766314.

rs1485337663 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 9:5713919 (GRCh38)
9:5713919 (GRCh37)
Canonical SPDI:: NC_000009.12:5713918:C:T
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,genic_upstream_transcript_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000047/1 (ALFA)
T=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5713919C>T, NC_000009.11:g.5713919C>T, NM_020829.4:c.356C>T, NM_020829.3:c.356C>T, XM_005251523.4:c.356C>T, XM_005251523.3:c.356C>T, XM_005251523.2:c.356C>T, XM_005251523.1:c.356C>T, XR_428426.4:n.559C>T, XR_428426.3:n.636C>T, XR_428426.2:n.636C>T, XR_428426.1:n.635C>T, NM_001135920.4:c.356C>T, NM_001135920.3:c.356C>T, NM_001135920.2:c.356C>T, XM_017014935.2:c.11C>T, XM_017014935.1:c.11C>T, NM_001206557.2:c.356C>T, NM_001206557.1:c.356C>T, XM_017014934.2:c.11C>T, XM_017014934.1:c.11C>T, XM_017014936.2:c.11C>T, XM_017014936.1:c.11C>T, XM_047423610.1:c.11C>T, XM_047423609.1:c.356C>T, XR_007061330.1:n.559C>T, XR_007061331.1:n.559C>T, XR_007061332.1:n.559C>T, NP_065880.2:p.Thr119Ile, XP_005251580.1:p.Thr119Ile, NP_001129392.2:p.Thr119Ile, XP_016870424.1:p.Thr4Ile, NP_001193486.1:p.Thr119Ile, XP_016870423.1:p.Thr4Ile, XP_016870425.1:p.Thr4Ile, XP_047279566.1:p.Thr4Ile, XP_047279565.1:p.Thr119Ile

Select item 148499423115.

rs1484994231 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 9:5742895 (GRCh38)
9:5742895 (GRCh37)
Canonical SPDI:: NC_000009.12:5742894:A:G
Gene:: RIC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
HGVS:: NC_000009.12:g.5742895A>G, NC_000009.11:g.5742895A>G, NM_020829.4:c.928A>G, NM_020829.3:c.928A>G, XM_005251523.4:c.925A>G, XM_005251523.3:c.925A>G, XM_005251523.2:c.925A>G, XM_005251523.1:c.925A>G, XR_428426.4:n.1131A>G, XR_428426.3:n.1208A>G, XR_428426.2:n.1208A>G, XR_428426.1:n.1207A>G, NM_001135920.4:c.928A>G, NM_001135920.3:c.928A>G, NM_001135920.2:c.928A>G, XM_011517967.3:c.-6A>G, XM_011517967.2:c.-6A>G, XM_011517967.1:c.-6A>G, XM_017014935.2:c.583A>G, XM_017014935.1:c.583A>G, NM_001206557.2:c.928A>G, NM_001206557.1:c.928A>G, XM_017014934.2:c.583A>G, XM_017014934.1:c.583A>G, XM_017014936.2:c.583A>G, XM_017014936.1:c.583A>G, XM_047423610.1:c.583A>G, XM_047423609.1:c.925A>G, XR_007061330.1:n.1128A>G, XR_007061331.1:n.1131A>G, XR_007061332.1:n.1128A>G, NP_065880.2:p.Lys310Glu, XP_005251580.1:p.Lys309Glu, NP_001129392.2:p.Lys310Glu, XP_016870424.1:p.Lys195Glu, NP_001193486.1:p.Lys310Glu, XP_016870423.1:p.Lys195Glu, XP_016870425.1:p.Lys195Glu, XP_047279566.1:p.Lys195Glu, XP_047279565.1:p.Lys309Glu

Select item 148372010916.

rs1483720109 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 9:5629452 (GRCh38)
9:5629452 (GRCh37)
Canonical SPDI:: NC_000009.12:5629451:G:A,NC_000009.12:5629451:G:C
Gene:: RIC1 (Varview), LOC124902114 (Varview)
Functional Consequence:: intron_variant,missense_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by cluster
HGVS:: NC_000009.12:g.5629452G>A, NC_000009.12:g.5629452G>C, NC_000009.11:g.5629452G>A, NC_000009.11:g.5629452G>C, NM_020829.4:c.143G>A, NM_020829.4:c.143G>C, NM_020829.3:c.143G>A, NM_020829.3:c.143G>C, XM_005251523.4:c.143G>A, XM_005251523.4:c.143G>C, XM_005251523.3:c.143G>A, XM_005251523.3:c.143G>C, XM_005251523.2:c.143G>A, XM_005251523.2:c.143G>C, XM_005251523.1:c.143G>A, XM_005251523.1:c.143G>C, XR_428426.4:n.346G>A, XR_428426.4:n.346G>C, XR_428426.3:n.423G>A, XR_428426.3:n.423G>C, XR_428426.2:n.423G>A, XR_428426.2:n.423G>C, XR_428426.1:n.422G>A, XR_428426.1:n.422G>C, NM_001135920.4:c.143G>A, NM_001135920.4:c.143G>C, NM_001135920.3:c.143G>A, NM_001135920.3:c.143G>C, NM_001135920.2:c.143G>A, NM_001135920.2:c.143G>C, NM_001206557.2:c.143G>A, NM_001206557.2:c.143G>C, NM_001206557.1:c.143G>A, NM_001206557.1:c.143G>C, XM_047423609.1:c.143G>A, XM_047423609.1:c.143G>C, XR_007061330.1:n.346G>A, XR_007061330.1:n.346G>C, XR_007061331.1:n.346G>A, XR_007061331.1:n.346G>C, XR_007061332.1:n.346G>A, XR_007061332.1:n.346G>C, NP_065880.2:p.Arg48Gln, NP_065880.2:p.Arg48Pro, XP_005251580.1:p.Arg48Gln, XP_005251580.1:p.Arg48Pro, NP_001129392.2:p.Arg48Gln, NP_001129392.2:p.Arg48Pro, NP_001193486.1:p.Arg48Gln, NP_001193486.1:p.Arg48Pro, XP_047279565.1:p.Arg48Gln, XP_047279565.1:p.Arg48Pro

Select item 148315811017.

rs1483158110 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:5747487 (GRCh38)
9:5747487 (GRCh37)
Canonical SPDI:: NC_000009.12:5747486:G:A
Gene:: RIC1 (Varview)
Functional Consequence:: non_coding_transcript_variant,upstream_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
HGVS:: NC_000009.12:g.5747487G>A, NC_000009.11:g.5747487G>A, NM_020829.4:c.1434G>A, NM_020829.3:c.1434G>A, XM_005251523.4:c.1431G>A, XM_005251523.3:c.1431G>A, XM_005251523.2:c.1431G>A, XM_005251523.1:c.1431G>A, XR_428426.4:n.1637G>A, XR_428426.3:n.1714G>A, XR_428426.2:n.1714G>A, XR_428426.1:n.1713G>A, NM_001135920.4:c.1434G>A, NM_001135920.3:c.1434G>A, NM_001135920.2:c.1434G>A, XM_011517967.3:c.501G>A, XM_011517967.2:c.501G>A, XM_011517967.1:c.501G>A, XM_017014935.2:c.1089G>A, XM_017014935.1:c.1089G>A, NM_001206557.2:c.1434G>A, NM_001206557.1:c.1434G>A, XM_017014934.2:c.1089G>A, XM_017014934.1:c.1089G>A, XM_017014936.2:c.1089G>A, XM_017014936.1:c.1089G>A, XM_047423610.1:c.1089G>A, XM_047423609.1:c.1431G>A, XR_007061330.1:n.1634G>A, XR_007061331.1:n.1637G>A, XR_007061332.1:n.1634G>A

Select item 148278818218.

rs1482788182 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 9:5762632 (GRCh38)
9:5762632 (GRCh37)
Canonical SPDI:: NC_000009.12:5762631:A:T
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000014/2 (GnomAD)
T=0.000015/4 (TOPMED)
HGVS:: NC_000009.12:g.5762632A>T, NC_000009.11:g.5762632A>T, NM_020829.4:c.2084A>T, NM_020829.3:c.2084A>T, XM_005251523.4:c.2081A>T, XM_005251523.3:c.2081A>T, XM_005251523.2:c.2081A>T, XM_005251523.1:c.2081A>T, XR_428426.4:n.2287A>T, XR_428426.3:n.2364A>T, XR_428426.2:n.2364A>T, XR_428426.1:n.2363A>T, NM_001135920.4:c.2084A>T, NM_001135920.3:c.2084A>T, NM_001135920.2:c.2084A>T, XM_011517967.3:c.1151A>T, XM_011517967.2:c.1151A>T, XM_011517967.1:c.1151A>T, XM_011517968.3:c.473A>T, XM_011517968.2:c.473A>T, XM_011517968.1:c.473A>T, XM_017014935.2:c.1739A>T, XM_017014935.1:c.1739A>T, NM_001206557.2:c.1973A>T, NM_001206557.1:c.1973A>T, XM_017014934.2:c.1739A>T, XM_017014934.1:c.1739A>T, XM_017014936.2:c.1739A>T, XM_017014936.1:c.1739A>T, XM_047423610.1:c.1628A>T, XM_047423609.1:c.1970A>T, XR_007061330.1:n.2284A>T, XR_007061331.1:n.2176A>T, XR_007061332.1:n.2173A>T, XM_047423611.1:c.473A>T, NP_065880.2:p.Asp695Val, XP_005251580.1:p.Asp694Val, NP_001129392.2:p.Asp695Val, XP_011516269.1:p.Asp384Val, XP_011516270.1:p.Asp158Val, XP_016870424.1:p.Asp580Val, NP_001193486.1:p.Asp658Val, XP_016870423.1:p.Asp580Val, XP_016870425.1:p.Asp580Val, XP_047279566.1:p.Asp543Val, XP_047279565.1:p.Asp657Val, XP_047279567.1:p.Asp158Val

Select item 148253932919.

rs1482539329 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 9:5756249 (GRCh38)
9:5756249 (GRCh37)
Canonical SPDI:: NC_000009.12:5756248:C:G
Gene:: RIC1 (Varview)
Functional Consequence:: coding_sequence_variant,non_coding_transcript_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0./0 (ALFA)
G=0.000008/2 (TOPMED)
HGVS:: NC_000009.12:g.5756249C>G, NC_000009.11:g.5756249C>G, NM_020829.4:c.1730C>G, NM_020829.3:c.1730C>G, XM_005251523.4:c.1727C>G, XM_005251523.3:c.1727C>G, XM_005251523.2:c.1727C>G, XM_005251523.1:c.1727C>G, XR_428426.4:n.1933C>G, XR_428426.3:n.2010C>G, XR_428426.2:n.2010C>G, XR_428426.1:n.2009C>G, NM_001135920.4:c.1730C>G, NM_001135920.3:c.1730C>G, NM_001135920.2:c.1730C>G, XM_011517967.3:c.797C>G, XM_011517967.2:c.797C>G, XM_011517967.1:c.797C>G, XM_011517968.3:c.119C>G, XM_011517968.2:c.119C>G, XM_011517968.1:c.119C>G, XM_017014935.2:c.1385C>G, XM_017014935.1:c.1385C>G, NM_001206557.2:c.1619C>G, NM_001206557.1:c.1619C>G, XM_017014934.2:c.1385C>G, XM_017014934.1:c.1385C>G, XM_017014936.2:c.1385C>G, XM_017014936.1:c.1385C>G, XM_047423610.1:c.1274C>G, XM_047423609.1:c.1616C>G, XR_007061330.1:n.1930C>G, XR_007061331.1:n.1822C>G, XR_007061332.1:n.1819C>G, XM_047423611.1:c.119C>G, NP_065880.2:p.Ala577Gly, XP_005251580.1:p.Ala576Gly, NP_001129392.2:p.Ala577Gly, XP_011516269.1:p.Ala266Gly, XP_011516270.1:p.Ala40Gly, XP_016870424.1:p.Ala462Gly, NP_001193486.1:p.Ala540Gly, XP_016870423.1:p.Ala462Gly, XP_016870425.1:p.Ala462Gly, XP_047279566.1:p.Ala425Gly, XP_047279565.1:p.Ala539Gly, XP_047279567.1:p.Ala40Gly

Select item 148159682620.

rs1481596826 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 9:5732436 (GRCh38)
9:5732436 (GRCh37)
Canonical SPDI:: NC_000009.12:5732435:G:A
Gene:: RIC1 (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,non_coding_transcript_variant,coding_sequence_variant,genic_upstream_transcript_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000009.12:g.5732436G>A, NC_000009.11:g.5732436G>A, NM_020829.4:c.769G>A, NM_020829.3:c.769G>A, XM_005251523.4:c.766G>A, XM_005251523.3:c.766G>A, XM_005251523.2:c.766G>A, XM_005251523.1:c.766G>A, XR_428426.4:n.972G>A, XR_428426.3:n.1049G>A, XR_428426.2:n.1049G>A, XR_428426.1:n.1048G>A, NM_001135920.4:c.769G>A, NM_001135920.3:c.769G>A, NM_001135920.2:c.769G>A, XM_011517967.3:c.-76G>A, XM_011517967.2:c.-76G>A, XM_011517967.1:c.-76G>A, XM_017014935.2:c.424G>A, XM_017014935.1:c.424G>A, NM_001206557.2:c.769G>A, NM_001206557.1:c.769G>A, XM_017014934.2:c.424G>A, XM_017014934.1:c.424G>A, XM_017014936.2:c.424G>A, XM_017014936.1:c.424G>A, XM_047423610.1:c.424G>A, XM_047423609.1:c.766G>A, XR_007061330.1:n.969G>A, XR_007061331.1:n.972G>A, XR_007061332.1:n.969G>A, NP_065880.2:p.Ala257Thr, XP_005251580.1:p.Ala256Thr, NP_001129392.2:p.Ala257Thr, XP_016870424.1:p.Ala142Thr, NP_001193486.1:p.Ala257Thr, XP_016870423.1:p.Ala142Thr, XP_016870425.1:p.Ala142Thr, XP_047279566.1:p.Ala142Thr, XP_047279565.1:p.Ala256Thr

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