SNP Links for Protein (Select 1034605995) - SNP

Links from Protein

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Select item 14814684501.

rs1481468450 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:32833235 (GRCh38)
19:33324141 (GRCh37)
Canonical SPDI:: NC_000019.10:32833234:A:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000034/9 (TOPMED)
HGVS:: NC_000019.10:g.32833235A>T, NC_000019.9:g.33324141A>T, NG_008258.1:g.41543T>A, NM_014270.5:c.1313T>A, NM_014270.4:c.1313T>A, NM_001243036.2:c.1313T>A, NM_001243036.1:c.1313T>A, NM_001126335.2:c.1313T>A, NM_001126335.1:c.1313T>A, XM_011526402.4:c.1313T>A, XM_011526402.3:c.1313T>A, XM_011526402.2:c.1313T>A, XM_011526402.1:c.1313T>A, XM_017026230.1:c.1049T>A, XM_047438117.1:c.632T>A, NP_055085.1:p.Leu438His, NP_001229965.1:p.Leu438His, NP_001119807.1:p.Leu438His, XP_011524704.1:p.Leu438His, XP_016881719.1:p.Leu350His, XP_047294073.1:p.Leu211His

Select item 14808710592.

rs1480871059 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:32843915 (GRCh38)
19:33334821 (GRCh37)
Canonical SPDI:: NC_000019.10:32843914:G:C
Gene:: SLC7A9 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32843915G>C, NC_000019.9:g.33334821G>C, NG_008258.1:g.30863C>G, NM_014270.5:c.1014C>G, NM_014270.4:c.1014C>G, NM_001243036.2:c.1014C>G, NM_001243036.1:c.1014C>G, NM_001126335.2:c.1014C>G, NM_001126335.1:c.1014C>G, XM_011526402.4:c.1014C>G, XM_011526402.3:c.1014C>G, XM_011526402.2:c.1014C>G, XM_011526402.1:c.1014C>G, XM_017026230.1:c.750C>G, XM_047438117.1:c.333C>G

Select item 14712515403.

rs1471251540 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32864304 (GRCh38)
19:33355210 (GRCh37)
Canonical SPDI:: NC_000019.10:32864303:G:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: genic_upstream_transcript_variant,synonymous_variant,upstream_transcript_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000021/3 (GnomAD)
HGVS:: NC_000019.10:g.32864304G>A, NC_000019.9:g.33355210G>A, NG_008258.1:g.10474C>T, NM_014270.5:c.270C>T, NM_014270.4:c.270C>T, NM_001243036.2:c.270C>T, NM_001243036.1:c.270C>T, NM_001126335.2:c.270C>T, NM_001126335.1:c.270C>T, XM_011526402.4:c.270C>T, XM_011526402.3:c.270C>T, XM_011526402.2:c.270C>T, XM_011526402.1:c.270C>T, XM_017026230.1:c.6C>T

Select item 14707911284.

rs1470791128 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:32858507 (GRCh38)
19:33349413 (GRCh37)
Canonical SPDI:: NC_000019.10:32858506:T:G
Gene:: SLC7A9 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: G=0.000052/1 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32858507T>G, NC_000019.9:g.33349413T>G, NG_008258.1:g.16271A>C, NM_014270.5:c.910A>C, NM_014270.4:c.910A>C, NM_001243036.2:c.910A>C, NM_001243036.1:c.910A>C, NM_001126335.2:c.910A>C, NM_001126335.1:c.910A>C, XM_011526402.4:c.910A>C, XM_011526402.3:c.910A>C, XM_011526402.2:c.910A>C, XM_011526402.1:c.910A>C, XM_017026230.1:c.646A>C, XM_047438117.1:c.229A>C, NP_055085.1:p.Ile304Leu, NP_001229965.1:p.Ile304Leu, NP_001119807.1:p.Ile304Leu, XP_011524704.1:p.Ile304Leu, XP_016881719.1:p.Ile216Leu, XP_047294073.1:p.Ile77Leu

Select item 14665230605.

rs1466523060 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 19:32833290 (GRCh38)
19:33324196 (GRCh37)
Canonical SPDI:: NC_000019.10:32833289:T:G
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (TOPMED)
G=0.000007/1 (GnomAD)
HGVS:: NC_000019.10:g.32833290T>G, NC_000019.9:g.33324196T>G, NG_008258.1:g.41488A>C, NM_014270.5:c.1258A>C, NM_014270.4:c.1258A>C, NM_001243036.2:c.1258A>C, NM_001243036.1:c.1258A>C, NM_001126335.2:c.1258A>C, NM_001126335.1:c.1258A>C, XM_011526402.4:c.1258A>C, XM_011526402.3:c.1258A>C, XM_011526402.2:c.1258A>C, XM_011526402.1:c.1258A>C, XM_017026230.1:c.994A>C, XM_047438117.1:c.577A>C, NP_055085.1:p.Ile420Leu, NP_001229965.1:p.Ile420Leu, NP_001119807.1:p.Ile420Leu, XP_011524704.1:p.Ile420Leu, XP_016881719.1:p.Ile332Leu, XP_047294073.1:p.Ile193Leu

Select item 14664737206.

rs1466473720 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32843900 (GRCh38)
19:33334806 (GRCh37)
Canonical SPDI:: NC_000019.10:32843899:G:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_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.32843900G>A, NC_000019.9:g.33334806G>A, NG_008258.1:g.30878C>T, NM_014270.5:c.1029C>T, NM_014270.4:c.1029C>T, NM_001243036.2:c.1029C>T, NM_001243036.1:c.1029C>T, NM_001126335.2:c.1029C>T, NM_001126335.1:c.1029C>T, XM_011526402.4:c.1029C>T, XM_011526402.3:c.1029C>T, XM_011526402.2:c.1029C>T, XM_011526402.1:c.1029C>T, XM_017026230.1:c.765C>T, XM_047438117.1:c.348C>T

Select item 14648706487.

rs1464870648 [Homo sapiens]

Variant type:: SNV
Alleles:: A>C [Show Flanks]
Chromosome:: 19:32830626 (GRCh38)
19:33321532 (GRCh37)
Canonical SPDI:: NC_000019.10:32830625:A:C
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32830626A>C, NC_000019.9:g.33321532A>C, NG_008258.1:g.44152T>G, NM_014270.5:c.1458T>G, NM_014270.4:c.1458T>G, NM_001243036.2:c.1458T>G, NM_001243036.1:c.1458T>G, NM_001126335.2:c.1458T>G, NM_001126335.1:c.1458T>G, XM_011526402.4:c.1458T>G, XM_011526402.3:c.1458T>G, XM_011526402.2:c.1458T>G, XM_011526402.1:c.1458T>G, XM_017026230.1:c.1194T>G, XM_047438117.1:c.777T>G

Select item 14601924108.

rs1460192410 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32862144 (GRCh38)
19:33353050 (GRCh37)
Canonical SPDI:: NC_000019.10:32862143:G:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.32862144G>A, NC_000019.9:g.33353050G>A, NG_008258.1:g.12634C>T, NM_014270.5:c.678C>T, NM_014270.4:c.678C>T, NM_001243036.2:c.678C>T, NM_001243036.1:c.678C>T, NM_001126335.2:c.678C>T, NM_001126335.1:c.678C>T, XM_011526402.4:c.678C>T, XM_011526402.3:c.678C>T, XM_011526402.2:c.678C>T, XM_011526402.1:c.678C>T, XM_017026230.1:c.414C>T

Select item 14601645579.

rs1460164557 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:32858473 (GRCh38)
19:33349379 (GRCh37)
Canonical SPDI:: NC_000019.10:32858472:C:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32858473C>T, NC_000019.9:g.33349379C>T, NG_008258.1:g.16305G>A, NM_014270.5:c.944G>A, NM_014270.4:c.944G>A, NM_001243036.2:c.944G>A, NM_001243036.1:c.944G>A, NM_001126335.2:c.944G>A, NM_001126335.1:c.944G>A, XM_011526402.4:c.944G>A, XM_011526402.3:c.944G>A, XM_011526402.2:c.944G>A, XM_011526402.1:c.944G>A, XM_017026230.1:c.680G>A, XM_047438117.1:c.263G>A, NP_055085.1:p.Gly315Asp, NP_001229965.1:p.Gly315Asp, NP_001119807.1:p.Gly315Asp, XP_011524704.1:p.Gly315Asp, XP_016881719.1:p.Gly227Asp, XP_047294073.1:p.Gly88Asp

Select item 145589962810.

rs1455899628 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:32862501 (GRCh38)
19:33353407 (GRCh37)
Canonical SPDI:: NC_000019.10:32862500:C:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: intron_variant,coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa
MAF:: T=0.000111/1 (ALFA)
T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32862501C>T, NC_000019.9:g.33353407C>T, NG_008258.1:g.12277G>A, NM_014270.5:c.564G>A, NM_014270.4:c.564G>A, NM_001243036.2:c.564G>A, NM_001243036.1:c.564G>A, NM_001126335.2:c.564G>A, NM_001126335.1:c.564G>A, XM_011526402.4:c.564G>A, XM_011526402.3:c.564G>A, XM_011526402.2:c.564G>A, XM_011526402.1:c.564G>A, XM_017026230.1:c.300G>A

Select item 145375830411.

rs1453758304 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 19:32830654 (GRCh38)
19:33321560 (GRCh37)
Canonical SPDI:: NC_000019.10:32830653:A:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: T=0.000071/1 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.32830654A>T, NC_000019.9:g.33321560A>T, NG_008258.1:g.44124T>A, NM_014270.5:c.1430T>A, NM_014270.4:c.1430T>A, NM_001243036.2:c.1430T>A, NM_001243036.1:c.1430T>A, NM_001126335.2:c.1430T>A, NM_001126335.1:c.1430T>A, XM_011526402.4:c.1430T>A, XM_011526402.3:c.1430T>A, XM_011526402.2:c.1430T>A, XM_011526402.1:c.1430T>A, XM_017026230.1:c.1166T>A, XM_047438117.1:c.749T>A, NP_055085.1:p.Met477Lys, NP_001229965.1:p.Met477Lys, NP_001119807.1:p.Met477Lys, XP_011524704.1:p.Met477Lys, XP_016881719.1:p.Met389Lys, XP_047294073.1:p.Met250Lys

Select item 145268254112.

rs1452682541 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 19:32864168 (GRCh38)
19:33355074 (GRCh37)
Canonical SPDI:: NC_000019.10:32864167:C:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: 5_prime_UTR_variant,coding_sequence_variant,missense_variant
HGVS:: NC_000019.10:g.32864168C>T, NC_000019.9:g.33355074C>T, NG_008258.1:g.10610G>A, NM_014270.5:c.406G>A, NM_014270.4:c.406G>A, NM_001243036.2:c.406G>A, NM_001243036.1:c.406G>A, NM_001126335.2:c.406G>A, NM_001126335.1:c.406G>A, XM_011526402.4:c.406G>A, XM_011526402.3:c.406G>A, XM_011526402.2:c.406G>A, XM_011526402.1:c.406G>A, XM_017026230.1:c.142G>A, XM_047438117.1:c.-50G>A, NP_055085.1:p.Val136Met, NP_001229965.1:p.Val136Met, NP_001119807.1:p.Val136Met, XP_011524704.1:p.Val136Met, XP_016881719.1:p.Val48Met

Select item 145204918013.

rs1452049180 [Homo sapiens]

Variant type:: DELINS
Alleles:: CACCAGCTTGGCCGCGGT>- [Show Flanks]
Chromosome:: 19:32862507 (GRCh38)
19:33353413 (GRCh37)
Canonical SPDI:: NC_000019.10:32862505:TCACCAGCTTGGCCGCGGT:T
Gene:: SLC7A9 (Varview)
Functional Consequence:: inframe_deletion,intron_variant,coding_sequence_variant
Validated:: by frequency
MAF:: -=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32862507_32862524del, NC_000019.9:g.33353413_33353430del, NG_008258.1:g.12255_12272del, NM_014270.5:c.542_559del, NM_014270.4:c.542_559del, NM_001243036.2:c.542_559del, NM_001243036.1:c.542_559del, NM_001126335.2:c.542_559del, NM_001126335.1:c.542_559del, XM_011526402.4:c.542_559del, XM_011526402.3:c.542_559del, XM_011526402.2:c.542_559del, XM_011526402.1:c.542_559del, XM_017026230.1:c.278_295del, NP_055085.1:p.Thr181_Val186del, NP_001229965.1:p.Thr181_Val186del, NP_001119807.1:p.Thr181_Val186del, XP_011524704.1:p.Thr181_Val186del, XP_016881719.1:p.Thr93_Val98del

Select item 145020173714.

rs1450201737 [Homo sapiens]

Variant type:: DELINS
Alleles:: G>- [Show Flanks]
Chromosome:: 19:32864103 (GRCh38)
19:33355009 (GRCh37)
Canonical SPDI:: NC_000019.10:32864102:GG:G
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency,by alfa
MAF:: GG=0./0 (ALFA)
-=0.000004/1 (TOPMED)
HGVS:: NC_000019.10:g.32864104del, NC_000019.9:g.33355010del, NG_008258.1:g.10675del, NM_014270.5:c.471del, NM_014270.4:c.471del, NM_001243036.2:c.471del, NM_001243036.1:c.471del, NM_001126335.2:c.471del, NM_001126335.1:c.471del, XM_011526402.4:c.471del, XM_011526402.3:c.471del, XM_011526402.2:c.471del, XM_011526402.1:c.471del, XM_017026230.1:c.207del, XM_047438117.1:c.16del, NP_055085.1:p.Ala158fs, NP_001229965.1:p.Ala158fs, NP_001119807.1:p.Ala158fs, XP_011524704.1:p.Ala158fs, XP_016881719.1:p.Ala70fs, XP_047294073.1:p.Arg6fs

Select item 144974249915.

rs1449742499 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 19:32833222 (GRCh38)
19:33324128 (GRCh37)
Canonical SPDI:: NC_000019.10:32833221:C:G
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: G=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32833222C>G, NC_000019.9:g.33324128C>G, NG_008258.1:g.41556G>C, NM_014270.5:c.1326G>C, NM_014270.4:c.1326G>C, NM_001243036.2:c.1326G>C, NM_001243036.1:c.1326G>C, NM_001126335.2:c.1326G>C, NM_001126335.1:c.1326G>C, XM_011526402.4:c.1326G>C, XM_011526402.3:c.1326G>C, XM_011526402.2:c.1326G>C, XM_011526402.1:c.1326G>C, XM_017026230.1:c.1062G>C, XM_047438117.1:c.645G>C

Select item 144928142716.

rs1449281427 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 19:32830633 (GRCh38)
19:33321539 (GRCh37)
Canonical SPDI:: NC_000019.10:32830632:T:C
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32830633T>C, NC_000019.9:g.33321539T>C, NG_008258.1:g.44145A>G, NM_014270.5:c.1451A>G, NM_014270.4:c.1451A>G, NM_001243036.2:c.1451A>G, NM_001243036.1:c.1451A>G, NM_001126335.2:c.1451A>G, NM_001126335.1:c.1451A>G, XM_011526402.4:c.1451A>G, XM_011526402.3:c.1451A>G, XM_011526402.2:c.1451A>G, XM_011526402.1:c.1451A>G, XM_017026230.1:c.1187A>G, XM_047438117.1:c.770A>G, NP_055085.1:p.Glu484Gly, NP_001229965.1:p.Glu484Gly, NP_001119807.1:p.Glu484Gly, XP_011524704.1:p.Glu484Gly, XP_016881719.1:p.Glu396Gly, XP_047294073.1:p.Glu257Gly

Select item 144497624917.

rs1444976249 [Homo sapiens]

Variant type:: SNV
Alleles:: T>A [Show Flanks]
Chromosome:: 19:32860644 (GRCh38)
19:33351550 (GRCh37)
Canonical SPDI:: NC_000019.10:32860643:T:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: A=0./0 (ALFA)
A=0.000008/2 (TOPMED)
HGVS:: NC_000019.10:g.32860644T>A, NC_000019.9:g.33351550T>A, NG_008258.1:g.14134A>T, NM_014270.5:c.711A>T, NM_014270.4:c.711A>T, NM_001243036.2:c.711A>T, NM_001243036.1:c.711A>T, NM_001126335.2:c.711A>T, NM_001126335.1:c.711A>T, XM_011526402.4:c.711A>T, XM_011526402.3:c.711A>T, XM_011526402.2:c.711A>T, XM_011526402.1:c.711A>T, XM_017026230.1:c.447A>T, XM_047438117.1:c.30A>T, NP_055085.1:p.Gln237His, NP_001229965.1:p.Gln237His, NP_001119807.1:p.Gln237His, XP_011524704.1:p.Gln237His, XP_016881719.1:p.Gln149His, XP_047294073.1:p.Gln10His

Select item 144412953818.

rs1444129538 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 19:32833320 (GRCh38)
19:33324226 (GRCh37)
Canonical SPDI:: NC_000019.10:32833319:G:C
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32833320G>C, NC_000019.9:g.33324226G>C, NG_008258.1:g.41458C>G, NM_014270.5:c.1228C>G, NM_014270.4:c.1228C>G, NM_001243036.2:c.1228C>G, NM_001243036.1:c.1228C>G, NM_001126335.2:c.1228C>G, NM_001126335.1:c.1228C>G, XM_011526402.4:c.1228C>G, XM_011526402.3:c.1228C>G, XM_011526402.2:c.1228C>G, XM_011526402.1:c.1228C>G, XM_017026230.1:c.964C>G, XM_047438117.1:c.547C>G, NP_055085.1:p.Pro410Ala, NP_001229965.1:p.Pro410Ala, NP_001119807.1:p.Pro410Ala, XP_011524704.1:p.Pro410Ala, XP_016881719.1:p.Pro322Ala, XP_047294073.1:p.Pro183Ala

Select item 144388103119.

rs1443881031 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32833236 (GRCh38)
19:33324142 (GRCh37)
Canonical SPDI:: NC_000019.10:32833235:G:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0.000071/1 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
HGVS:: NC_000019.10:g.32833236G>A, NC_000019.9:g.33324142G>A, NG_008258.1:g.41542C>T, NM_014270.5:c.1312C>T, NM_014270.4:c.1312C>T, NM_001243036.2:c.1312C>T, NM_001243036.1:c.1312C>T, NM_001126335.2:c.1312C>T, NM_001126335.1:c.1312C>T, XM_011526402.4:c.1312C>T, XM_011526402.3:c.1312C>T, XM_011526402.2:c.1312C>T, XM_011526402.1:c.1312C>T, XM_017026230.1:c.1048C>T, XM_047438117.1:c.631C>T, NP_055085.1:p.Leu438Phe, NP_001229965.1:p.Leu438Phe, NP_001119807.1:p.Leu438Phe, XP_011524704.1:p.Leu438Phe, XP_016881719.1:p.Leu350Phe, XP_047294073.1:p.Leu211Phe

Select item 143959546220.

rs1439595462 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 19:32858478 (GRCh38)
19:33349384 (GRCh37)
Canonical SPDI:: NC_000019.10:32858477:G:A
Gene:: SLC7A9 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (TOPMED)
A=0.000008/2 (GnomAD_exomes)
A=0.000342/1 (KOREAN)
HGVS:: NC_000019.10:g.32858478G>A, NC_000019.9:g.33349384G>A, NG_008258.1:g.16300C>T, NM_014270.5:c.939C>T, NM_014270.4:c.939C>T, NM_001243036.2:c.939C>T, NM_001243036.1:c.939C>T, NM_001126335.2:c.939C>T, NM_001126335.1:c.939C>T, XM_011526402.4:c.939C>T, XM_011526402.3:c.939C>T, XM_011526402.2:c.939C>T, XM_011526402.1:c.939C>T, XM_017026230.1:c.675C>T, XM_047438117.1:c.258C>T

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