SNP Links for Protein (Select 157041224) - SNP

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Links from Protein

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Select item 14897469191.

rs1489746919 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,T [Show Flanks]
Chromosome:: 1:20724421 (GRCh38)
1:21050914 (GRCh37)
Canonical SPDI:: NC_000001.11:20724420:G:A,NC_000001.11:20724420:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.20724421G>A, NC_000001.11:g.20724421G>T, NC_000001.10:g.21050914G>A, NC_000001.10:g.21050914G>T, XM_011541461.3:c.605C>T, XM_011541461.3:c.605C>A, XM_011541461.2:c.605C>T, XM_011541461.2:c.605C>A, XM_011541461.1:c.605C>T, XM_011541461.1:c.605C>A, XM_011541462.2:c.605C>T, XM_011541462.2:c.605C>A, XM_011541462.1:c.605C>T, XM_011541462.1:c.605C>A, XM_011541460.2:c.605C>T, XM_011541460.2:c.605C>A, XM_011541460.1:c.605C>T, XM_011541460.1:c.605C>A, NM_001103161.2:c.605C>T, NM_001103161.2:c.605C>A, NM_001103161.1:c.605C>T, NM_001103161.1:c.605C>A, NM_001103160.2:c.353C>T, NM_001103160.2:c.353C>A, NM_001103160.1:c.353C>T, NM_001103160.1:c.353C>A, XP_011539763.1:p.Pro202Leu, XP_011539763.1:p.Pro202Gln, XP_011539764.1:p.Pro202Leu, XP_011539764.1:p.Pro202Gln, XP_011539762.1:p.Pro202Leu, XP_011539762.1:p.Pro202Gln, NP_001096631.1:p.Pro202Leu, NP_001096631.1:p.Pro202Gln, NP_001096630.1:p.Pro118Leu, NP_001096630.1:p.Pro118Gln

Select item 14888939102.

rs1488893910 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 1:20724409 (GRCh38)
1:21050902 (GRCh37)
Canonical SPDI:: NC_000001.11:20724408:A:G
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20724409A>G, NC_000001.10:g.21050902A>G, XM_011541461.3:c.617T>C, XM_011541461.2:c.617T>C, XM_011541461.1:c.617T>C, XM_011541462.2:c.617T>C, XM_011541462.1:c.617T>C, XM_011541460.2:c.617T>C, XM_011541460.1:c.617T>C, NM_001103161.2:c.617T>C, NM_001103161.1:c.617T>C, NM_001103160.2:c.365T>C, NM_001103160.1:c.365T>C, XP_011539763.1:p.Leu206Pro, XP_011539764.1:p.Leu206Pro, XP_011539762.1:p.Leu206Pro, NP_001096631.1:p.Leu206Pro, NP_001096630.1:p.Leu122Pro

Select item 14865010113.

rs1486501011 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20722903 (GRCh38)
1:21049396 (GRCh37)
Canonical SPDI:: NC_000001.11:20722902:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000005/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20722903C>T, NC_000001.10:g.21049396C>T, XM_011541461.3:c.921G>A, XM_011541461.2:c.921G>A, XM_011541461.1:c.921G>A, XM_011541462.2:c.918G>A, XM_011541462.1:c.918G>A, XM_011541460.2:c.921G>A, XM_011541460.1:c.921G>A, NM_001103161.2:c.921G>A, NM_001103161.1:c.921G>A, NM_001103160.2:c.669G>A, NM_001103160.1:c.669G>A

Select item 14809109854.

rs1480910985 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20724110 (GRCh38)
1:21050603 (GRCh37)
Canonical SPDI:: NC_000001.11:20724109:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: stop_gained,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20724110G>A, NC_000001.10:g.21050603G>A, XM_011541461.3:c.772C>T, XM_011541461.2:c.772C>T, XM_011541461.1:c.772C>T, XM_011541462.2:c.769C>T, XM_011541462.1:c.769C>T, XM_011541460.2:c.772C>T, XM_011541460.1:c.772C>T, NM_001103161.2:c.772C>T, NM_001103161.1:c.772C>T, NM_001103160.2:c.520C>T, NM_001103160.1:c.520C>T, XP_011539763.1:p.Gln258Ter, XP_011539764.1:p.Gln257Ter, XP_011539762.1:p.Gln258Ter, NP_001096631.1:p.Gln258Ter, NP_001096630.1:p.Gln174Ter

Select item 14790853795.

rs1479085379 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20722848 (GRCh38)
1:21049341 (GRCh37)
Canonical SPDI:: NC_000001.11:20722847:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20722848C>T, NC_000001.10:g.21049341C>T, XM_011541461.3:c.976G>A, XM_011541461.2:c.976G>A, XM_011541461.1:c.976G>A, XM_011541462.2:c.973G>A, XM_011541462.1:c.973G>A, XM_011541460.2:c.976G>A, XM_011541460.1:c.976G>A, NM_001103161.2:c.976G>A, NM_001103161.1:c.976G>A, NM_001103160.2:c.724G>A, NM_001103160.1:c.724G>A, XP_011539763.1:p.Ala326Thr, XP_011539764.1:p.Ala325Thr, XP_011539762.1:p.Ala326Thr, NP_001096631.1:p.Ala326Thr, NP_001096630.1:p.Ala242Thr

Select item 14789227196.

rs1478922719 [Homo sapiens]

Variant type:: SNV
Alleles:: G>T [Show Flanks]
Chromosome:: 1:20724614 (GRCh38)
1:21051107 (GRCh37)
Canonical SPDI:: NC_000001.11:20724613:G:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000007/1 (GnomAD)
HGVS:: NC_000001.11:g.20724614G>T, NC_000001.10:g.21051107G>T, XM_011541461.3:c.412C>A, XM_011541461.2:c.412C>A, XM_011541461.1:c.412C>A, XM_011541462.2:c.412C>A, XM_011541462.1:c.412C>A, XM_011541460.2:c.412C>A, XM_011541460.1:c.412C>A, NM_001103161.2:c.412C>A, NM_001103161.1:c.412C>A, NM_001103160.2:c.160C>A, NM_001103160.1:c.160C>A, XP_011539763.1:p.Leu138Met, XP_011539764.1:p.Leu138Met, XP_011539762.1:p.Leu138Met, NP_001096631.1:p.Leu138Met, NP_001096630.1:p.Leu54Met

Select item 14772716597.

rs1477271659 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20726040 (GRCh38)
1:21052533 (GRCh37)
Canonical SPDI:: NC_000001.11:20726039:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
HGVS:: NC_000001.11:g.20726040C>T, NC_000001.10:g.21052533C>T, XM_011541461.3:c.270G>A, XM_011541461.2:c.270G>A, XM_011541461.1:c.270G>A, XM_011541462.2:c.270G>A, XM_011541462.1:c.270G>A, XM_011541460.2:c.270G>A, XM_011541460.1:c.270G>A, NM_001103161.2:c.270G>A, NM_001103161.1:c.270G>A, NM_001103160.2:c.18G>A, NM_001103160.1:c.18G>A

Select item 14763201408.

rs1476320140 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20721940 (GRCh38)
1:21048433 (GRCh37)
Canonical SPDI:: NC_000001.11:20721939:G:A,NC_000001.11:20721939:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
A=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20721940G>A, NC_000001.11:g.20721940G>C, NC_000001.10:g.21048433G>A, NC_000001.10:g.21048433G>C, XM_011541461.3:c.1124C>T, XM_011541461.3:c.1124C>G, XM_011541461.2:c.1124C>T, XM_011541461.2:c.1124C>G, XM_011541461.1:c.1124C>T, XM_011541461.1:c.1124C>G, XM_011541462.2:c.1121C>T, XM_011541462.2:c.1121C>G, XM_011541462.1:c.1121C>T, XM_011541462.1:c.1121C>G, XM_011541460.2:c.1124C>T, XM_011541460.2:c.1124C>G, XM_011541460.1:c.1124C>T, XM_011541460.1:c.1124C>G, NM_001103161.2:c.1124C>T, NM_001103161.2:c.1124C>G, NM_001103161.1:c.1124C>T, NM_001103161.1:c.1124C>G, NM_001103160.2:c.872C>T, NM_001103160.2:c.872C>G, NM_001103160.1:c.872C>T, NM_001103160.1:c.872C>G, XP_011539763.1:p.Thr375Ile, XP_011539763.1:p.Thr375Ser, XP_011539764.1:p.Thr374Ile, XP_011539764.1:p.Thr374Ser, XP_011539762.1:p.Thr375Ile, XP_011539762.1:p.Thr375Ser, NP_001096631.1:p.Thr375Ile, NP_001096631.1:p.Thr375Ser, NP_001096630.1:p.Thr291Ile, NP_001096630.1:p.Thr291Ser

Select item 14724214879.

rs1472421487 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20724539 (GRCh38)
1:21051032 (GRCh37)
Canonical SPDI:: NC_000001.11:20724538:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.20724539G>A, NC_000001.10:g.21051032G>A, XM_011541461.3:c.487C>T, XM_011541461.2:c.487C>T, XM_011541461.1:c.487C>T, XM_011541462.2:c.487C>T, XM_011541462.1:c.487C>T, XM_011541460.2:c.487C>T, XM_011541460.1:c.487C>T, NM_001103161.2:c.487C>T, NM_001103161.1:c.487C>T, NM_001103160.2:c.235C>T, NM_001103160.1:c.235C>T, XP_011539763.1:p.Pro163Ser, XP_011539764.1:p.Pro163Ser, XP_011539762.1:p.Pro163Ser, NP_001096631.1:p.Pro163Ser, NP_001096630.1:p.Pro79Ser

Select item 146969379710.

rs1469693797 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:20724120 (GRCh38)
1:21050613 (GRCh37)
Canonical SPDI:: NC_000001.11:20724119:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20724120G>C, NC_000001.10:g.21050613G>C, XM_011541461.3:c.762C>G, XM_011541461.2:c.762C>G, XM_011541461.1:c.762C>G, XM_011541462.2:c.759C>G, XM_011541462.1:c.759C>G, XM_011541460.2:c.762C>G, XM_011541460.1:c.762C>G, NM_001103161.2:c.762C>G, NM_001103161.1:c.762C>G, NM_001103160.2:c.510C>G, NM_001103160.1:c.510C>G

Select item 146778418111.

rs1467784181 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20724242 (GRCh38)
1:21050735 (GRCh37)
Canonical SPDI:: NC_000001.11:20724241:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
HGVS:: NC_000001.11:g.20724242G>A, NC_000001.10:g.21050735G>A, XM_011541461.3:c.640C>T, XM_011541461.2:c.640C>T, XM_011541461.1:c.640C>T, XM_011541462.2:c.637C>T, XM_011541462.1:c.637C>T, XM_011541460.2:c.640C>T, XM_011541460.1:c.640C>T, NM_001103161.2:c.640C>T, NM_001103161.1:c.640C>T, NM_001103160.2:c.388C>T, NM_001103160.1:c.388C>T, XP_011539763.1:p.Pro214Ser, XP_011539764.1:p.Pro213Ser, XP_011539762.1:p.Pro214Ser, NP_001096631.1:p.Pro214Ser, NP_001096630.1:p.Pro130Ser

Select item 146726048812.

rs1467260488 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 1:20724559 (GRCh38)
1:21051052 (GRCh37)
Canonical SPDI:: NC_000001.11:20724558:T:C
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000043/1 (ALFA)
C=0.000005/1 (GnomAD_exomes)
C=0.000007/1 (GnomAD)
C=0.000008/2 (TOPMED)
HGVS:: NC_000001.11:g.20724559T>C, NC_000001.10:g.21051052T>C, XM_011541461.3:c.467A>G, XM_011541461.2:c.467A>G, XM_011541461.1:c.467A>G, XM_011541462.2:c.467A>G, XM_011541462.1:c.467A>G, XM_011541460.2:c.467A>G, XM_011541460.1:c.467A>G, NM_001103161.2:c.467A>G, NM_001103161.1:c.467A>G, NM_001103160.2:c.215A>G, NM_001103160.1:c.215A>G, XP_011539763.1:p.Gln156Arg, XP_011539764.1:p.Gln156Arg, XP_011539762.1:p.Gln156Arg, NP_001096631.1:p.Gln156Arg, NP_001096630.1:p.Gln72Arg

Select item 146121752013.

rs1461217520 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20724234 (GRCh38)
1:21050727 (GRCh37)
Canonical SPDI:: NC_000001.11:20724233:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0.000031/1 (ALFA)
T=0.000008/2 (TOPMED)
T=0.000014/2 (GnomAD)
HGVS:: NC_000001.11:g.20724234C>T, NC_000001.10:g.21050727C>T, XM_011541461.3:c.648G>A, XM_011541461.2:c.648G>A, XM_011541461.1:c.648G>A, XM_011541462.2:c.645G>A, XM_011541462.1:c.645G>A, XM_011541460.2:c.648G>A, XM_011541460.1:c.648G>A, NM_001103161.2:c.648G>A, NM_001103161.1:c.648G>A, NM_001103160.2:c.396G>A, NM_001103160.1:c.396G>A

Select item 146041678814.

rs1460416788 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 1:20726025 (GRCh38)
1:21052518 (GRCh37)
Canonical SPDI:: NC_000001.11:20726024:G:A
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20726025G>A, NC_000001.10:g.21052518G>A, XM_011541461.3:c.285C>T, XM_011541461.2:c.285C>T, XM_011541461.1:c.285C>T, XM_011541462.2:c.285C>T, XM_011541462.1:c.285C>T, XM_011541460.2:c.285C>T, XM_011541460.1:c.285C>T, NM_001103161.2:c.285C>T, NM_001103161.1:c.285C>T, NM_001103160.2:c.33C>T, NM_001103160.1:c.33C>T

Select item 145977307315.

rs1459773073 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A,C [Show Flanks]
Chromosome:: 1:20724176 (GRCh38)
1:21050669 (GRCh37)
Canonical SPDI:: NC_000001.11:20724175:G:A,NC_000001.11:20724175:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
A=0.00004/1 (TOMMO)
HGVS:: NC_000001.11:g.20724176G>A, NC_000001.11:g.20724176G>C, NC_000001.10:g.21050669G>A, NC_000001.10:g.21050669G>C, XM_011541461.3:c.706C>T, XM_011541461.3:c.706C>G, XM_011541461.2:c.706C>T, XM_011541461.2:c.706C>G, XM_011541461.1:c.706C>T, XM_011541461.1:c.706C>G, XM_011541462.2:c.703C>T, XM_011541462.2:c.703C>G, XM_011541462.1:c.703C>T, XM_011541462.1:c.703C>G, XM_011541460.2:c.706C>T, XM_011541460.2:c.706C>G, XM_011541460.1:c.706C>T, XM_011541460.1:c.706C>G, NM_001103161.2:c.706C>T, NM_001103161.2:c.706C>G, NM_001103161.1:c.706C>T, NM_001103161.1:c.706C>G, NM_001103160.2:c.454C>T, NM_001103160.2:c.454C>G, NM_001103160.1:c.454C>T, NM_001103160.1:c.454C>G, XP_011539763.1:p.Arg236Cys, XP_011539763.1:p.Arg236Gly, XP_011539764.1:p.Arg235Cys, XP_011539764.1:p.Arg235Gly, XP_011539762.1:p.Arg236Cys, XP_011539762.1:p.Arg236Gly, NP_001096631.1:p.Arg236Cys, NP_001096631.1:p.Arg236Gly, NP_001096630.1:p.Arg152Cys, NP_001096630.1:p.Arg152Gly

Select item 145739710416.

rs1457397104 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A,G [Show Flanks]
Chromosome:: 1:20725972 (GRCh38)
1:21052465 (GRCh37)
Canonical SPDI:: NC_000001.11:20725971:C:A,NC_000001.11:20725971:C:G
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000004/1 (GnomAD_exomes)
G=0.002183/4 (Korea1K)
HGVS:: NC_000001.11:g.20725972C>A, NC_000001.11:g.20725972C>G, NC_000001.10:g.21052465C>A, NC_000001.10:g.21052465C>G, XM_011541461.3:c.338G>T, XM_011541461.3:c.338G>C, XM_011541461.2:c.338G>T, XM_011541461.2:c.338G>C, XM_011541461.1:c.338G>T, XM_011541461.1:c.338G>C, XM_011541462.2:c.338G>T, XM_011541462.2:c.338G>C, XM_011541462.1:c.338G>T, XM_011541462.1:c.338G>C, XM_011541460.2:c.338G>T, XM_011541460.2:c.338G>C, XM_011541460.1:c.338G>T, XM_011541460.1:c.338G>C, NM_001103161.2:c.338G>T, NM_001103161.2:c.338G>C, NM_001103161.1:c.338G>T, NM_001103161.1:c.338G>C, NM_001103160.2:c.86G>T, NM_001103160.2:c.86G>C, NM_001103160.1:c.86G>T, NM_001103160.1:c.86G>C, XP_011539763.1:p.Ser113Ile, XP_011539763.1:p.Ser113Thr, XP_011539764.1:p.Ser113Ile, XP_011539764.1:p.Ser113Thr, XP_011539762.1:p.Ser113Ile, XP_011539762.1:p.Ser113Thr, NP_001096631.1:p.Ser113Ile, NP_001096631.1:p.Ser113Thr, NP_001096630.1:p.Ser29Ile, NP_001096630.1:p.Ser29Thr

Select item 145602282717.

rs1456022827 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 1:20724549 (GRCh38)
1:21051042 (GRCh37)
Canonical SPDI:: NC_000001.11:20724548:G:C
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,synonymous_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0.000066/1 (ALFA)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
C=0.000223/1 (Estonian)
HGVS:: NC_000001.11:g.20724549G>C, NC_000001.10:g.21051042G>C, XM_011541461.3:c.477C>G, XM_011541461.2:c.477C>G, XM_011541461.1:c.477C>G, XM_011541462.2:c.477C>G, XM_011541462.1:c.477C>G, XM_011541460.2:c.477C>G, XM_011541460.1:c.477C>G, NM_001103161.2:c.477C>G, NM_001103161.1:c.477C>G, NM_001103160.2:c.225C>G, NM_001103160.1:c.225C>G

Select item 145412311018.

rs1454123110 [Homo sapiens]

Variant type:: DELINS
Alleles:: ->G [Show Flanks]
Chromosome:: 1:20722880 (GRCh38)
1:21049374 (GRCh37)
Canonical SPDI:: NC_000001.11:20722880:G:GG
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,frameshift_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20722881dup, NC_000001.10:g.21049374dup, XM_011541461.3:c.943dup, XM_011541461.2:c.943dup, XM_011541461.1:c.943dup, XM_011541462.2:c.940dup, XM_011541462.1:c.940dup, XM_011541460.2:c.943dup, XM_011541460.1:c.943dup, NM_001103161.2:c.943dup, NM_001103161.1:c.943dup, NM_001103160.2:c.691dup, NM_001103160.1:c.691dup, XP_011539763.1:p.Leu315fs, XP_011539764.1:p.Leu314fs, XP_011539762.1:p.Leu315fs, NP_001096631.1:p.Leu315fs, NP_001096630.1:p.Leu231fs

Select item 145340689219.

rs1453406892 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G,T [Show Flanks]
Chromosome:: 1:20723714 (GRCh38)
1:21050207 (GRCh37)
Canonical SPDI:: NC_000001.11:20723713:A:G,NC_000001.11:20723713:A:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_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)
HGVS:: NC_000001.11:g.20723714A>G, NC_000001.11:g.20723714A>T, NC_000001.10:g.21050207A>G, NC_000001.10:g.21050207A>T, XM_011541461.3:c.820T>C, XM_011541461.3:c.820T>A, XM_011541461.2:c.820T>C, XM_011541461.2:c.820T>A, XM_011541461.1:c.820T>C, XM_011541461.1:c.820T>A, XM_011541462.2:c.817T>C, XM_011541462.2:c.817T>A, XM_011541462.1:c.817T>C, XM_011541462.1:c.817T>A, XM_011541460.2:c.820T>C, XM_011541460.2:c.820T>A, XM_011541460.1:c.820T>C, XM_011541460.1:c.820T>A, NM_001103161.2:c.820T>C, NM_001103161.2:c.820T>A, NM_001103161.1:c.820T>C, NM_001103161.1:c.820T>A, NM_001103160.2:c.568T>C, NM_001103160.2:c.568T>A, NM_001103160.1:c.568T>C, NM_001103160.1:c.568T>A, XP_011539763.1:p.Trp274Arg, XP_011539763.1:p.Trp274Arg, XP_011539764.1:p.Trp273Arg, XP_011539764.1:p.Trp273Arg, XP_011539762.1:p.Trp274Arg, XP_011539762.1:p.Trp274Arg, NP_001096631.1:p.Trp274Arg, NP_001096631.1:p.Trp274Arg, NP_001096630.1:p.Trp190Arg, NP_001096630.1:p.Trp190Arg

Select item 144977639820.

rs1449776398 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 1:20724193 (GRCh38)
1:21050686 (GRCh37)
Canonical SPDI:: NC_000001.11:20724192:C:T
Gene:: SH2D5 (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000001.11:g.20724193C>T, NC_000001.10:g.21050686C>T, XM_011541461.3:c.689G>A, XM_011541461.2:c.689G>A, XM_011541461.1:c.689G>A, XM_011541462.2:c.686G>A, XM_011541462.1:c.686G>A, XM_011541460.2:c.689G>A, XM_011541460.1:c.689G>A, NM_001103161.2:c.689G>A, NM_001103161.1:c.689G>A, NM_001103160.2:c.437G>A, NM_001103160.1:c.437G>A, XP_011539763.1:p.Cys230Tyr, XP_011539764.1:p.Cys229Tyr, XP_011539762.1:p.Cys230Tyr, NP_001096631.1:p.Cys230Tyr, NP_001096630.1:p.Cys146Tyr

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