SNP Links for Protein (Select 768004209) - SNP

Links from Protein

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Select item 14887573721.

rs1488757372 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:13757807 (GRCh38)
19:13868621 (GRCh37)
Canonical SPDI:: NC_000019.10:13757806:A:C
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000019.10:g.13757807A>C, NC_000019.9:g.13868621A>C, XM_005260086.5:c.218A>C, XM_005260086.4:c.218A>C, XM_005260086.3:c.218A>C, XM_005260086.2:c.218A>C, XM_005260086.1:c.218A>C, NM_030818.4:c.218A>C, NM_030818.3:c.218A>C, NM_030818.2:c.218A>C, XM_011528326.3:c.218A>C, XM_011528326.2:c.218A>C, XM_011528326.1:c.218A>C, NM_001320566.2:c.-307A>C, NM_001320566.1:c.-307A>C, NM_001320561.2:c.218A>C, NM_001320561.1:c.218A>C, NM_001320564.2:c.218A>C, NM_001320564.1:c.218A>C, NM_001320567.2:c.-307A>C, NM_001320567.1:c.-307A>C, NM_001320565.2:c.218A>C, NM_001320565.1:c.218A>C, NM_001320568.2:c.-307A>C, NM_001320568.1:c.-307A>C, NM_001320569.2:c.71A>C, NM_001320569.1:c.71A>C, XM_047439475.1:c.218A>C, XP_005260143.1:p.Lys73Thr, NP_110445.1:p.Lys73Thr, XP_011526628.1:p.Lys73Thr, NP_001307490.1:p.Lys73Thr, NP_001307493.1:p.Lys73Thr, NP_001307494.1:p.Lys73Thr, NP_001307498.1:p.Lys24Thr, XP_047295431.1:p.Lys73Thr

Select item 14871196412.

rs1487119641 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13756223 (GRCh38)
19:13867037 (GRCh37)
Canonical SPDI:: NC_000019.10:13756222:C:T
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000008/2 (GnomAD_exomes)
T=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.13756223C>T, NC_000019.9:g.13867037C>T, XM_005260086.5:c.84C>T, XM_005260086.4:c.84C>T, XM_005260086.3:c.84C>T, XM_005260086.2:c.84C>T, XM_005260086.1:c.84C>T, NM_030818.4:c.84C>T, NM_030818.3:c.84C>T, NM_030818.2:c.84C>T, XM_011528326.3:c.84C>T, XM_011528326.2:c.84C>T, XM_011528326.1:c.84C>T, NM_001320566.2:c.-441C>T, NM_001320566.1:c.-441C>T, NM_001320561.2:c.84C>T, NM_001320561.1:c.84C>T, NM_001320564.2:c.84C>T, NM_001320564.1:c.84C>T, NM_001320567.2:c.-441C>T, NM_001320567.1:c.-441C>T, NM_001320565.2:c.84C>T, NM_001320565.1:c.84C>T, NM_001320568.2:c.-441C>T, NM_001320568.1:c.-441C>T, NM_001320569.2:c.-64C>T, NM_001320569.1:c.-64C>T, XM_047439475.1:c.84C>T

Select item 14830502913.

rs1483050291 [Homo sapiens]

Variant type:: DEL
Alleles:: T>- [Show Flanks]
Chromosome:: 19:13757787 (GRCh38)
19:13868601 (GRCh37)
Canonical SPDI:: NC_000019.10:13757786:T:
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,frameshift_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: -=0./0 (ALFA)
-=0.000019/5 (TOPMED)
HGVS:: NC_000019.10:g.13757787del, NC_000019.9:g.13868601del, XM_005260086.5:c.198del, XM_005260086.4:c.198del, XM_005260086.3:c.198del, XM_005260086.2:c.198del, XM_005260086.1:c.198del, NM_030818.4:c.198del, NM_030818.3:c.198del, NM_030818.2:c.198del, XM_011528326.3:c.198del, XM_011528326.2:c.198del, XM_011528326.1:c.198del, NM_001320566.2:c.-327del, NM_001320566.1:c.-327del, NM_001320561.2:c.198del, NM_001320561.1:c.198del, NM_001320564.2:c.198del, NM_001320564.1:c.198del, NM_001320567.2:c.-327del, NM_001320567.1:c.-327del, NM_001320565.2:c.198del, NM_001320565.1:c.198del, NM_001320568.2:c.-327del, NM_001320568.1:c.-327del, NM_001320569.2:c.51del, NM_001320569.1:c.51del, XM_047439475.1:c.198del, XP_005260143.1:p.Val67fs, NP_110445.1:p.Val67fs, XP_011526628.1:p.Val67fs, NP_001307490.1:p.Val67fs, NP_001307493.1:p.Val67fs, NP_001307494.1:p.Val67fs, NP_001307498.1:p.Val18fs, XP_047295431.1:p.Val67fs

Select item 14780775904.

rs1478077590 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13759137 (GRCh38)
19:13869951 (GRCh37)
Canonical SPDI:: NC_000019.10:13759136:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: initiator_codon_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000007/1 (GnomAD)
A=0.000035/1 (TOMMO)
HGVS:: NC_000019.10:g.13759137G>A, NC_000019.9:g.13869951G>A, XM_005260086.5:c.438G>A, XM_005260086.4:c.438G>A, XM_005260086.3:c.438G>A, XM_005260086.2:c.438G>A, XM_005260086.1:c.438G>A, NM_030818.4:c.438G>A, NM_030818.3:c.438G>A, NM_030818.2:c.438G>A, XM_011528326.3:c.438G>A, XM_011528326.2:c.438G>A, XM_011528326.1:c.438G>A, NM_001320566.2:c.3G>A, NM_001320566.1:c.3G>A, NM_001320561.2:c.438G>A, NM_001320561.1:c.438G>A, NM_001320564.2:c.438G>A, NM_001320564.1:c.438G>A, NM_001320567.2:c.3G>A, NM_001320567.1:c.3G>A, NM_001320565.2:c.438G>A, NM_001320565.1:c.438G>A, NM_001320568.2:c.3G>A, NM_001320568.1:c.3G>A, NM_001320569.2:c.291G>A, NM_001320569.1:c.291G>A, XM_047439475.1:c.438G>A, XP_005260143.1:p.Met146Ile, NP_110445.1:p.Met146Ile, XP_011526628.1:p.Met146Ile, NP_001307495.1:p.Met1Ile, NP_001307490.1:p.Met146Ile, NP_001307493.1:p.Met146Ile, NP_001307496.1:p.Met1Ile, NP_001307494.1:p.Met146Ile, NP_001307497.1:p.Met1Ile, NP_001307498.1:p.Met97Ile, XP_047295431.1:p.Met146Ile

Select item 14676599425.

rs1467659942 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13758957 (GRCh38)
19:13869771 (GRCh37)
Canonical SPDI:: NC_000019.10:13758956:A:G
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13758957A>G, NC_000019.9:g.13869771A>G, XM_005260086.5:c.347A>G, XM_005260086.4:c.347A>G, XM_005260086.3:c.347A>G, XM_005260086.2:c.347A>G, XM_005260086.1:c.347A>G, NM_030818.4:c.347A>G, NM_030818.3:c.347A>G, NM_030818.2:c.347A>G, XM_011528326.3:c.347A>G, XM_011528326.2:c.347A>G, XM_011528326.1:c.347A>G, NM_001320566.2:c.-178A>G, NM_001320566.1:c.-178A>G, NM_001320561.2:c.347A>G, NM_001320561.1:c.347A>G, NM_001320564.2:c.347A>G, NM_001320564.1:c.347A>G, NM_001320567.2:c.-178A>G, NM_001320567.1:c.-178A>G, NM_001320565.2:c.347A>G, NM_001320565.1:c.347A>G, NM_001320568.2:c.-178A>G, NM_001320568.1:c.-178A>G, NM_001320569.2:c.200A>G, NM_001320569.1:c.200A>G, XM_047439475.1:c.347A>G, XP_005260143.1:p.Gln116Arg, NP_110445.1:p.Gln116Arg, XP_011526628.1:p.Gln116Arg, NP_001307490.1:p.Gln116Arg, NP_001307493.1:p.Gln116Arg, NP_001307494.1:p.Gln116Arg, NP_001307498.1:p.Gln67Arg, XP_047295431.1:p.Gln116Arg

Select item 14676231556.

rs1467623155 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:13759197 (GRCh38)
19:13870011 (GRCh37)
Canonical SPDI:: NC_000019.10:13759196:G:C
Gene:: YJU2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13759197G>C, NC_000019.9:g.13870011G>C, XM_005260086.5:c.498G>C, XM_005260086.4:c.498G>C, XM_005260086.3:c.498G>C, XM_005260086.2:c.498G>C, XM_005260086.1:c.498G>C, NM_030818.4:c.498G>C, NM_030818.3:c.498G>C, NM_030818.2:c.498G>C, XM_011528326.3:c.498G>C, XM_011528326.2:c.498G>C, XM_011528326.1:c.498G>C, NM_001320566.2:c.63G>C, NM_001320566.1:c.63G>C, NM_001320561.2:c.498G>C, NM_001320561.1:c.498G>C, NM_001320564.2:c.498G>C, NM_001320564.1:c.498G>C, NM_001320567.2:c.63G>C, NM_001320567.1:c.63G>C, NM_001320565.2:c.498G>C, NM_001320565.1:c.498G>C, NM_001320568.2:c.63G>C, NM_001320568.1:c.63G>C, NM_001320569.2:c.351G>C, NM_001320569.1:c.351G>C, XM_047439475.1:c.498G>C

Select item 14610081077.

rs1461008107 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13759256 (GRCh38)
19:13870070 (GRCh37)
Canonical SPDI:: NC_000019.10:13759255:T:A
Gene:: YJU2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.13759256T>A, NC_000019.9:g.13870070T>A, XM_005260086.5:c.557T>A, XM_005260086.4:c.557T>A, XM_005260086.3:c.557T>A, XM_005260086.2:c.557T>A, XM_005260086.1:c.557T>A, NM_030818.4:c.557T>A, NM_030818.3:c.557T>A, NM_030818.2:c.557T>A, XM_011528326.3:c.557T>A, XM_011528326.2:c.557T>A, XM_011528326.1:c.557T>A, NM_001320566.2:c.122T>A, NM_001320566.1:c.122T>A, NM_001320561.2:c.557T>A, NM_001320561.1:c.557T>A, NM_001320564.2:c.557T>A, NM_001320564.1:c.557T>A, NM_001320567.2:c.122T>A, NM_001320567.1:c.122T>A, NM_001320565.2:c.557T>A, NM_001320565.1:c.557T>A, NM_001320568.2:c.122T>A, NM_001320568.1:c.122T>A, NM_001320569.2:c.410T>A, NM_001320569.1:c.410T>A, XM_047439475.1:c.557T>A, XP_005260143.1:p.Leu186Gln, NP_110445.1:p.Leu186Gln, XP_011526628.1:p.Leu186Gln, NP_001307495.1:p.Leu41Gln, NP_001307490.1:p.Leu186Gln, NP_001307493.1:p.Leu186Gln, NP_001307496.1:p.Leu41Gln, NP_001307494.1:p.Leu186Gln, NP_001307497.1:p.Leu41Gln, NP_001307498.1:p.Leu137Gln, XP_047295431.1:p.Leu186Gln

Select item 14602649318.

rs1460264931 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13759241 (GRCh38)
19:13870055 (GRCh37)
Canonical SPDI:: NC_000019.10:13759240:C:T
Gene:: YJU2B (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000056/2 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13759241C>T, NC_000019.9:g.13870055C>T, XM_005260086.5:c.542C>T, XM_005260086.4:c.542C>T, XM_005260086.3:c.542C>T, XM_005260086.2:c.542C>T, XM_005260086.1:c.542C>T, NM_030818.4:c.542C>T, NM_030818.3:c.542C>T, NM_030818.2:c.542C>T, XM_011528326.3:c.542C>T, XM_011528326.2:c.542C>T, XM_011528326.1:c.542C>T, NM_001320566.2:c.107C>T, NM_001320566.1:c.107C>T, NM_001320561.2:c.542C>T, NM_001320561.1:c.542C>T, NM_001320564.2:c.542C>T, NM_001320564.1:c.542C>T, NM_001320567.2:c.107C>T, NM_001320567.1:c.107C>T, NM_001320565.2:c.542C>T, NM_001320565.1:c.542C>T, NM_001320568.2:c.107C>T, NM_001320568.1:c.107C>T, NM_001320569.2:c.395C>T, NM_001320569.1:c.395C>T, XM_047439475.1:c.542C>T, XP_005260143.1:p.Ala181Val, NP_110445.1:p.Ala181Val, XP_011526628.1:p.Ala181Val, NP_001307495.1:p.Ala36Val, NP_001307490.1:p.Ala181Val, NP_001307493.1:p.Ala181Val, NP_001307496.1:p.Ala36Val, NP_001307494.1:p.Ala181Val, NP_001307497.1:p.Ala36Val, NP_001307498.1:p.Ala132Val, XP_047295431.1:p.Ala181Val

Select item 14552807509.

rs1455280750 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:13761509 (GRCh38)
19:13872323 (GRCh37)
Canonical SPDI:: NC_000019.10:13761508:C:T
Gene:: YJU2B (Varview)
Functional Consequence:: intron_variant,stop_gained,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
T=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13761509C>T, NC_000019.9:g.13872323C>T, NG_051243.1:g.2018C>T, XM_011528326.3:c.592C>T, XM_011528326.2:c.592C>T, XM_011528326.1:c.592C>T, XM_047439475.1:c.592C>T, XP_011526628.1:p.Gln198Ter, XP_047295431.1:p.Gln198Ter

Select item 144683363810.

rs1446833638 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13759152 (GRCh38)
19:13869966 (GRCh37)
Canonical SPDI:: NC_000019.10:13759151:T:C
Gene:: YJU2B (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: C=0.000111/1 (ALFA)
C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13759152T>C, NC_000019.9:g.13869966T>C, XM_005260086.5:c.453T>C, XM_005260086.4:c.453T>C, XM_005260086.3:c.453T>C, XM_005260086.2:c.453T>C, XM_005260086.1:c.453T>C, NM_030818.4:c.453T>C, NM_030818.3:c.453T>C, NM_030818.2:c.453T>C, XM_011528326.3:c.453T>C, XM_011528326.2:c.453T>C, XM_011528326.1:c.453T>C, NM_001320566.2:c.18T>C, NM_001320566.1:c.18T>C, NM_001320561.2:c.453T>C, NM_001320561.1:c.453T>C, NM_001320564.2:c.453T>C, NM_001320564.1:c.453T>C, NM_001320567.2:c.18T>C, NM_001320567.1:c.18T>C, NM_001320565.2:c.453T>C, NM_001320565.1:c.453T>C, NM_001320568.2:c.18T>C, NM_001320568.1:c.18T>C, NM_001320569.2:c.306T>C, NM_001320569.1:c.306T>C, XM_047439475.1:c.453T>C

Select item 144457761711.

rs1444577617 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 19:13754332 (GRCh38)
19:13865146 (GRCh37)
Canonical SPDI:: NC_000019.10:13754331:A:G
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13754332A>G, NC_000019.9:g.13865146A>G, XM_005260086.5:c.47A>G, XM_005260086.4:c.47A>G, XM_005260086.3:c.47A>G, XM_005260086.2:c.47A>G, XM_005260086.1:c.47A>G, NM_030818.4:c.47A>G, NM_030818.3:c.47A>G, NM_030818.2:c.47A>G, XM_011528326.3:c.47A>G, XM_011528326.2:c.47A>G, XM_011528326.1:c.47A>G, NM_001320566.2:c.-478A>G, NM_001320566.1:c.-478A>G, NM_001320561.2:c.47A>G, NM_001320561.1:c.47A>G, NM_001320564.2:c.47A>G, NM_001320564.1:c.47A>G, NM_001320567.2:c.-478A>G, NM_001320567.1:c.-478A>G, NM_001320565.2:c.47A>G, NM_001320565.1:c.47A>G, NM_001320568.2:c.-478A>G, NM_001320568.1:c.-478A>G, NM_001320569.2:c.-101A>G, NM_001320569.1:c.-101A>G, XM_047439475.1:c.47A>G, XP_005260143.1:p.Asn16Ser, NP_110445.1:p.Asn16Ser, XP_011526628.1:p.Asn16Ser, NP_001307490.1:p.Asn16Ser, NP_001307493.1:p.Asn16Ser, NP_001307494.1:p.Asn16Ser, XP_047295431.1:p.Asn16Ser

Select item 144405310812.

rs1444053108 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13759123 (GRCh38)
19:13869937 (GRCh37)
Canonical SPDI:: NC_000019.10:13759122:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13759123G>A, NC_000019.9:g.13869937G>A, XM_005260086.5:c.424G>A, XM_005260086.4:c.424G>A, XM_005260086.3:c.424G>A, XM_005260086.2:c.424G>A, XM_005260086.1:c.424G>A, NM_030818.4:c.424G>A, NM_030818.3:c.424G>A, NM_030818.2:c.424G>A, XM_011528326.3:c.424G>A, XM_011528326.2:c.424G>A, XM_011528326.1:c.424G>A, NM_001320566.2:c.-12G>A, NM_001320566.1:c.-12G>A, NM_001320561.2:c.424G>A, NM_001320561.1:c.424G>A, NM_001320564.2:c.424G>A, NM_001320564.1:c.424G>A, NM_001320567.2:c.-12G>A, NM_001320567.1:c.-12G>A, NM_001320565.2:c.424G>A, NM_001320565.1:c.424G>A, NM_001320568.2:c.-12G>A, NM_001320568.1:c.-12G>A, NM_001320569.2:c.277G>A, NM_001320569.1:c.277G>A, XM_047439475.1:c.424G>A, XP_005260143.1:p.Glu142Lys, NP_110445.1:p.Glu142Lys, XP_011526628.1:p.Glu142Lys, NP_001307490.1:p.Glu142Lys, NP_001307493.1:p.Glu142Lys, NP_001307494.1:p.Glu142Lys, NP_001307498.1:p.Glu93Lys, XP_047295431.1:p.Glu142Lys

Select item 144097273313.

rs1440972733 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:13758881 (GRCh38)
19:13869695 (GRCh37)
Canonical SPDI:: NC_000019.10:13758880:T:C
Gene:: YJU2B (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13758881T>C, NC_000019.9:g.13869695T>C, XM_005260086.5:c.271T>C, XM_005260086.4:c.271T>C, XM_005260086.3:c.271T>C, XM_005260086.2:c.271T>C, XM_005260086.1:c.271T>C, NM_030818.4:c.271T>C, NM_030818.3:c.271T>C, NM_030818.2:c.271T>C, XM_011528326.3:c.271T>C, XM_011528326.2:c.271T>C, XM_011528326.1:c.271T>C, NM_001320566.2:c.-254T>C, NM_001320566.1:c.-254T>C, NM_001320561.2:c.271T>C, NM_001320561.1:c.271T>C, NM_001320564.2:c.271T>C, NM_001320564.1:c.271T>C, NM_001320567.2:c.-254T>C, NM_001320567.1:c.-254T>C, NM_001320565.2:c.271T>C, NM_001320565.1:c.271T>C, NM_001320568.2:c.-254T>C, NM_001320568.1:c.-254T>C, NM_001320569.2:c.124T>C, NM_001320569.1:c.124T>C, XM_047439475.1:c.271T>C, XP_005260143.1:p.Cys91Arg, NP_110445.1:p.Cys91Arg, XP_011526628.1:p.Cys91Arg, NP_001307490.1:p.Cys91Arg, NP_001307493.1:p.Cys91Arg, NP_001307494.1:p.Cys91Arg, NP_001307498.1:p.Cys42Arg, XP_047295431.1:p.Cys91Arg

Select item 142845754614.

rs1428457546 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13759188 (GRCh38)
19:13870002 (GRCh37)
Canonical SPDI:: NC_000019.10:13759187:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
HGVS:: NC_000019.10:g.13759188G>A, NC_000019.9:g.13870002G>A, XM_005260086.5:c.489G>A, XM_005260086.4:c.489G>A, XM_005260086.3:c.489G>A, XM_005260086.2:c.489G>A, XM_005260086.1:c.489G>A, NM_030818.4:c.489G>A, NM_030818.3:c.489G>A, NM_030818.2:c.489G>A, XM_011528326.3:c.489G>A, XM_011528326.2:c.489G>A, XM_011528326.1:c.489G>A, NM_001320566.2:c.54G>A, NM_001320566.1:c.54G>A, NM_001320561.2:c.489G>A, NM_001320561.1:c.489G>A, NM_001320564.2:c.489G>A, NM_001320564.1:c.489G>A, NM_001320567.2:c.54G>A, NM_001320567.1:c.54G>A, NM_001320565.2:c.489G>A, NM_001320565.1:c.489G>A, NM_001320568.2:c.54G>A, NM_001320568.1:c.54G>A, NM_001320569.2:c.342G>A, NM_001320569.1:c.342G>A, XM_047439475.1:c.489G>A

Select item 142837174215.

rs1428371742 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 19:13756253 (GRCh38)
19:13867067 (GRCh37)
Canonical SPDI:: NC_000019.10:13756252:G:T
Gene:: YJU2B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.13756253G>T, NC_000019.9:g.13867067G>T, XM_005260086.5:c.114G>T, XM_005260086.4:c.114G>T, XM_005260086.3:c.114G>T, XM_005260086.2:c.114G>T, XM_005260086.1:c.114G>T, NM_030818.4:c.114G>T, NM_030818.3:c.114G>T, NM_030818.2:c.114G>T, XM_011528326.3:c.114G>T, XM_011528326.2:c.114G>T, XM_011528326.1:c.114G>T, NM_001320566.2:c.-411G>T, NM_001320566.1:c.-411G>T, NM_001320561.2:c.114G>T, NM_001320561.1:c.114G>T, NM_001320564.2:c.114G>T, NM_001320564.1:c.114G>T, NM_001320567.2:c.-411G>T, NM_001320567.1:c.-411G>T, NM_001320565.2:c.114G>T, NM_001320565.1:c.114G>T, NM_001320568.2:c.-411G>T, NM_001320568.1:c.-411G>T, NM_001320569.2:c.-34G>T, NM_001320569.1:c.-34G>T, XM_047439475.1:c.114G>T, XP_005260143.1:p.Lys38Asn, NP_110445.1:p.Lys38Asn, XP_011526628.1:p.Lys38Asn, NP_001307490.1:p.Lys38Asn, NP_001307493.1:p.Lys38Asn, NP_001307494.1:p.Lys38Asn, XP_047295431.1:p.Lys38Asn

Select item 142777540816.

rs1427775408 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 19:13757819 (GRCh38)
19:13868633 (GRCh37)
Canonical SPDI:: NC_000019.10:13757818:G:A,NC_000019.10:13757818:G:C
Gene:: YJU2B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000071/1 (ALFA)
C=0.000007/1 (GnomAD)
C=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13757819G>A, NC_000019.10:g.13757819G>C, NC_000019.9:g.13868633G>A, NC_000019.9:g.13868633G>C, XM_005260086.5:c.230G>A, XM_005260086.5:c.230G>C, XM_005260086.4:c.230G>A, XM_005260086.4:c.230G>C, XM_005260086.3:c.230G>A, XM_005260086.3:c.230G>C, XM_005260086.2:c.230G>A, XM_005260086.2:c.230G>C, XM_005260086.1:c.230G>A, XM_005260086.1:c.230G>C, NM_030818.4:c.230G>A, NM_030818.4:c.230G>C, NM_030818.3:c.230G>A, NM_030818.3:c.230G>C, NM_030818.2:c.230G>A, NM_030818.2:c.230G>C, XM_011528326.3:c.230G>A, XM_011528326.3:c.230G>C, XM_011528326.2:c.230G>A, XM_011528326.2:c.230G>C, XM_011528326.1:c.230G>A, XM_011528326.1:c.230G>C, NM_001320566.2:c.-295G>A, NM_001320566.2:c.-295G>C, NM_001320566.1:c.-295G>A, NM_001320566.1:c.-295G>C, NM_001320561.2:c.230G>A, NM_001320561.2:c.230G>C, NM_001320561.1:c.230G>A, NM_001320561.1:c.230G>C, NM_001320564.2:c.230G>A, NM_001320564.2:c.230G>C, NM_001320564.1:c.230G>A, NM_001320564.1:c.230G>C, NM_001320567.2:c.-295G>A, NM_001320567.2:c.-295G>C, NM_001320567.1:c.-295G>A, NM_001320567.1:c.-295G>C, NM_001320565.2:c.230G>A, NM_001320565.2:c.230G>C, NM_001320565.1:c.230G>A, NM_001320565.1:c.230G>C, NM_001320568.2:c.-295G>A, NM_001320568.2:c.-295G>C, NM_001320568.1:c.-295G>A, NM_001320568.1:c.-295G>C, NM_001320569.2:c.83G>A, NM_001320569.2:c.83G>C, NM_001320569.1:c.83G>A, NM_001320569.1:c.83G>C, XM_047439475.1:c.230G>A, XM_047439475.1:c.230G>C, XP_005260143.1:p.Gly77Asp, XP_005260143.1:p.Gly77Ala, NP_110445.1:p.Gly77Asp, NP_110445.1:p.Gly77Ala, XP_011526628.1:p.Gly77Asp, XP_011526628.1:p.Gly77Ala, NP_001307490.1:p.Gly77Asp, NP_001307490.1:p.Gly77Ala, NP_001307493.1:p.Gly77Asp, NP_001307493.1:p.Gly77Ala, NP_001307494.1:p.Gly77Asp, NP_001307494.1:p.Gly77Ala, NP_001307498.1:p.Gly28Asp, NP_001307498.1:p.Gly28Ala, XP_047295431.1:p.Gly77Asp, XP_047295431.1:p.Gly77Ala

Select item 142532580917.

rs1425325809 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 19:13759150 (GRCh38)
19:13869964 (GRCh37)
Canonical SPDI:: NC_000019.10:13759149:C:A
Gene:: YJU2B (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
A=0.000011/3 (TOPMED)
HGVS:: NC_000019.10:g.13759150C>A, NC_000019.9:g.13869964C>A, XM_005260086.5:c.451C>A, XM_005260086.4:c.451C>A, XM_005260086.3:c.451C>A, XM_005260086.2:c.451C>A, XM_005260086.1:c.451C>A, NM_030818.4:c.451C>A, NM_030818.3:c.451C>A, NM_030818.2:c.451C>A, XM_011528326.3:c.451C>A, XM_011528326.2:c.451C>A, XM_011528326.1:c.451C>A, NM_001320566.2:c.16C>A, NM_001320566.1:c.16C>A, NM_001320561.2:c.451C>A, NM_001320561.1:c.451C>A, NM_001320564.2:c.451C>A, NM_001320564.1:c.451C>A, NM_001320567.2:c.16C>A, NM_001320567.1:c.16C>A, NM_001320565.2:c.451C>A, NM_001320565.1:c.451C>A, NM_001320568.2:c.16C>A, NM_001320568.1:c.16C>A, NM_001320569.2:c.304C>A, NM_001320569.1:c.304C>A, XM_047439475.1:c.451C>A, XP_005260143.1:p.His151Asn, NP_110445.1:p.His151Asn, XP_011526628.1:p.His151Asn, NP_001307495.1:p.His6Asn, NP_001307490.1:p.His151Asn, NP_001307493.1:p.His151Asn, NP_001307496.1:p.His6Asn, NP_001307494.1:p.His151Asn, NP_001307497.1:p.His6Asn, NP_001307498.1:p.His102Asn, XP_047295431.1:p.His151Asn

Select item 142026915718.

rs1420269157 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:13756238 (GRCh38)
19:13867052 (GRCh37)
Canonical SPDI:: NC_000019.10:13756237:G:C
Gene:: YJU2B (Varview)
Functional Consequence:: synonymous_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000014/2 (GnomAD)
HGVS:: NC_000019.10:g.13756238G>C, NC_000019.9:g.13867052G>C, XM_005260086.5:c.99G>C, XM_005260086.4:c.99G>C, XM_005260086.3:c.99G>C, XM_005260086.2:c.99G>C, XM_005260086.1:c.99G>C, NM_030818.4:c.99G>C, NM_030818.3:c.99G>C, NM_030818.2:c.99G>C, XM_011528326.3:c.99G>C, XM_011528326.2:c.99G>C, XM_011528326.1:c.99G>C, NM_001320566.2:c.-426G>C, NM_001320566.1:c.-426G>C, NM_001320561.2:c.99G>C, NM_001320561.1:c.99G>C, NM_001320564.2:c.99G>C, NM_001320564.1:c.99G>C, NM_001320567.2:c.-426G>C, NM_001320567.1:c.-426G>C, NM_001320565.2:c.99G>C, NM_001320565.1:c.99G>C, NM_001320568.2:c.-426G>C, NM_001320568.1:c.-426G>C, NM_001320569.2:c.-49G>C, NM_001320569.1:c.-49G>C, XM_047439475.1:c.99G>C

Select item 141239452919.

rs1412394529 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:13757815 (GRCh38)
19:13868629 (GRCh37)
Canonical SPDI:: NC_000019.10:13757814:G:A
Gene:: YJU2B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.13757815G>A, NC_000019.9:g.13868629G>A, XM_005260086.5:c.226G>A, XM_005260086.4:c.226G>A, XM_005260086.3:c.226G>A, XM_005260086.2:c.226G>A, XM_005260086.1:c.226G>A, NM_030818.4:c.226G>A, NM_030818.3:c.226G>A, NM_030818.2:c.226G>A, XM_011528326.3:c.226G>A, XM_011528326.2:c.226G>A, XM_011528326.1:c.226G>A, NM_001320566.2:c.-299G>A, NM_001320566.1:c.-299G>A, NM_001320561.2:c.226G>A, NM_001320561.1:c.226G>A, NM_001320564.2:c.226G>A, NM_001320564.1:c.226G>A, NM_001320567.2:c.-299G>A, NM_001320567.1:c.-299G>A, NM_001320565.2:c.226G>A, NM_001320565.1:c.226G>A, NM_001320568.2:c.-299G>A, NM_001320568.1:c.-299G>A, NM_001320569.2:c.79G>A, NM_001320569.1:c.79G>A, XM_047439475.1:c.226G>A, XP_005260143.1:p.Val76Met, NP_110445.1:p.Val76Met, XP_011526628.1:p.Val76Met, NP_001307490.1:p.Val76Met, NP_001307493.1:p.Val76Met, NP_001307494.1:p.Val76Met, NP_001307498.1:p.Val27Met, XP_047295431.1:p.Val76Met

Select item 141233608920.

rs1412336089 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:13756234 (GRCh38)
19:13867048 (GRCh37)
Canonical SPDI:: NC_000019.10:13756233:T:A
Gene:: YJU2B (Varview)
Functional Consequence:: missense_variant,5_prime_UTR_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.13756234T>A, NC_000019.9:g.13867048T>A, XM_005260086.5:c.95T>A, XM_005260086.4:c.95T>A, XM_005260086.3:c.95T>A, XM_005260086.2:c.95T>A, XM_005260086.1:c.95T>A, NM_030818.4:c.95T>A, NM_030818.3:c.95T>A, NM_030818.2:c.95T>A, XM_011528326.3:c.95T>A, XM_011528326.2:c.95T>A, XM_011528326.1:c.95T>A, NM_001320566.2:c.-430T>A, NM_001320566.1:c.-430T>A, NM_001320561.2:c.95T>A, NM_001320561.1:c.95T>A, NM_001320564.2:c.95T>A, NM_001320564.1:c.95T>A, NM_001320567.2:c.-430T>A, NM_001320567.1:c.-430T>A, NM_001320565.2:c.95T>A, NM_001320565.1:c.95T>A, NM_001320568.2:c.-430T>A, NM_001320568.1:c.-430T>A, NM_001320569.2:c.-53T>A, NM_001320569.1:c.-53T>A, XM_047439475.1:c.95T>A, XP_005260143.1:p.Leu32His, NP_110445.1:p.Leu32His, XP_011526628.1:p.Leu32His, NP_001307490.1:p.Leu32His, NP_001307493.1:p.Leu32His, NP_001307494.1:p.Leu32His, XP_047295431.1:p.Leu32His

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