SNP Links for Protein (Select 21618342) - SNP

Links from Protein

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Select item 14898811981.

rs1489881198 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42299788 (GRCh38)
17:40451806 (GRCh37)
Canonical SPDI:: NC_000017.11:42299787:G:A
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: A=0./0 (ALFA)
A=0.000004/1 (GnomAD_exomes)
A=0.000015/4 (TOPMED)
HGVS:: NC_000017.11:g.42299788G>A, NC_000017.10:g.40451806G>A, NM_003152.4:c.588G>A, NM_003152.3:c.588G>A, XM_005257624.4:c.588G>A, NM_001288718.2:c.588G>A, NM_001288718.1:c.588G>A, NM_001288719.2:c.498G>A, NM_001288719.1:c.498G>A, NM_001288720.2:c.588G>A, NM_001288720.1:c.588G>A, XM_047436588.1:c.588G>A, XM_047436590.1:c.498G>A, XM_047436589.1:c.588G>A, NM_001411103.1:c.588G>A, XM_047436591.1:c.498G>A

Select item 14896468252.

rs1489646825 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42310621 (GRCh38)
17:40462639 (GRCh37)
Canonical SPDI:: NC_000017.11:42310620:C:G
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa
MAF:: G=0.000062/2 (ALFA)
G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42310621C>G, NC_000017.10:g.40462639C>G, NM_003152.4:c.2337C>G, NM_003152.3:c.2337C>G, XM_005257624.4:c.2177C>G, NM_001288718.2:c.2337C>G, NM_001288718.1:c.2337C>G, NM_001288719.2:c.2247C>G, NM_001288719.1:c.2247C>G, NM_001288720.2:c.2244C>G, NM_001288720.1:c.2244C>G, XM_047436588.1:c.2337C>G, XM_047436590.1:c.2247C>G, XM_047436589.1:c.2337C>G, NM_001411103.1:c.2177C>G, XM_047436591.1:c.2087C>G, XP_005257681.1:p.Ser726Cys, XP_047292547.1:p.Ser696Cys

Select item 14865256443.

rs1486525644 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42306390 (GRCh38)
17:40458408 (GRCh37)
Canonical SPDI:: NC_000017.11:42306389:C:T
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42306390C>T, NC_000017.10:g.40458408C>T, NM_003152.4:c.1623C>T, NM_003152.3:c.1623C>T, XM_005257624.4:c.1623C>T, NM_001288718.2:c.1623C>T, NM_001288718.1:c.1623C>T, NM_001288719.2:c.1533C>T, NM_001288719.1:c.1533C>T, NM_001288720.2:c.1530C>T, NM_001288720.1:c.1530C>T, XM_047436588.1:c.1623C>T, XM_047436590.1:c.1533C>T, XM_047436589.1:c.1623C>T, NM_001411103.1:c.1623C>T, XM_047436591.1:c.1533C>T

Select item 14839422224.

rs1483942222 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42295688 (GRCh38)
17:40447706 (GRCh37)
Canonical SPDI:: NC_000017.11:42295687:G:C
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42295688G>C, NC_000017.10:g.40447706G>C, NM_003152.4:c.445G>C, NM_003152.3:c.445G>C, XM_005257624.4:c.445G>C, NM_001288718.2:c.445G>C, NM_001288718.1:c.445G>C, NM_001288719.2:c.355G>C, NM_001288719.1:c.355G>C, NM_001288720.2:c.445G>C, NM_001288720.1:c.445G>C, XM_047436588.1:c.445G>C, XM_047436590.1:c.355G>C, XM_047436589.1:c.445G>C, NM_001411103.1:c.445G>C, XM_047436591.1:c.355G>C, NP_003143.2:p.Glu149Gln, XP_005257681.1:p.Glu149Gln, NP_001275647.1:p.Glu149Gln, NP_001275648.1:p.Glu119Gln, NP_001275649.1:p.Glu149Gln, XP_047292544.1:p.Glu149Gln, XP_047292546.1:p.Glu119Gln, XP_047292545.1:p.Glu149Gln, XP_047292547.1:p.Glu119Gln

Select item 14830986705.

rs1483098670 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42295620 (GRCh38)
17:40447638 (GRCh37)
Canonical SPDI:: NC_000017.11:42295619:G:A
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42295620G>A, NC_000017.10:g.40447638G>A, NM_003152.4:c.377G>A, NM_003152.3:c.377G>A, XM_005257624.4:c.377G>A, NM_001288718.2:c.377G>A, NM_001288718.1:c.377G>A, NM_001288719.2:c.287G>A, NM_001288719.1:c.287G>A, NM_001288720.2:c.377G>A, NM_001288720.1:c.377G>A, XM_047436588.1:c.377G>A, XM_047436590.1:c.287G>A, XM_047436589.1:c.377G>A, NM_001411103.1:c.377G>A, XM_047436591.1:c.287G>A, NP_003143.2:p.Cys126Tyr, XP_005257681.1:p.Cys126Tyr, NP_001275647.1:p.Cys126Tyr, NP_001275648.1:p.Cys96Tyr, NP_001275649.1:p.Cys126Tyr, XP_047292544.1:p.Cys126Tyr, XP_047292546.1:p.Cys96Tyr, XP_047292545.1:p.Cys126Tyr, XP_047292547.1:p.Cys96Tyr

Select item 14819885156.

rs1481988515 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42289528 (GRCh38)
17:40441546 (GRCh37)
Canonical SPDI:: NC_000017.11:42289527:G:C
Gene:: STAT5A (Varview), STAT5B (Varview)
Functional Consequence:: upstream_transcript_variant,2KB_upstream_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42289528G>C, NC_000017.10:g.40441546G>C, NM_003152.4:c.117G>C, NM_003152.3:c.117G>C, XM_005257624.4:c.117G>C, NM_001288718.2:c.117G>C, NM_001288718.1:c.117G>C, NM_001288719.2:c.117G>C, NM_001288719.1:c.117G>C, NM_001288720.2:c.117G>C, NM_001288720.1:c.117G>C, XM_047436588.1:c.117G>C, XM_047436590.1:c.117G>C, XM_047436589.1:c.117G>C, NM_001411103.1:c.117G>C, XM_047436591.1:c.117G>C, NP_003143.2:p.Glu39Asp, XP_005257681.1:p.Glu39Asp, NP_001275647.1:p.Glu39Asp, NP_001275648.1:p.Glu39Asp, NP_001275649.1:p.Glu39Asp, XP_047292544.1:p.Glu39Asp, XP_047292546.1:p.Glu39Asp, XP_047292545.1:p.Glu39Asp, XP_047292547.1:p.Glu39Asp

Select item 14815980467.

rs1481598046 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42307674 (GRCh38)
17:40459692 (GRCh37)
Canonical SPDI:: NC_000017.11:42307673:T:C
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency,by cluster
MAF:: C=0.000004/1 (GnomAD_exomes)
C=0.000546/1 (Korea1K)
HGVS:: NC_000017.11:g.42307674T>C, NC_000017.10:g.40459692T>C, NM_003152.4:c.1857T>C, NM_003152.3:c.1857T>C, XM_005257624.4:c.1857T>C, NM_001288718.2:c.1857T>C, NM_001288718.1:c.1857T>C, NM_001288719.2:c.1767T>C, NM_001288719.1:c.1767T>C, NM_001288720.2:c.1764T>C, NM_001288720.1:c.1764T>C, XM_047436588.1:c.1857T>C, XM_047436590.1:c.1767T>C, XM_047436589.1:c.1857T>C, NM_001411103.1:c.1857T>C, XM_047436591.1:c.1767T>C

Select item 14804534148.

rs1480453414 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42299798 (GRCh38)
17:40451816 (GRCh37)
Canonical SPDI:: NC_000017.11:42299797:C:T
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_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=0.000014/2 (GnomAD)
HGVS:: NC_000017.11:g.42299798C>T, NC_000017.10:g.40451816C>T, NM_003152.4:c.598C>T, NM_003152.3:c.598C>T, XM_005257624.4:c.598C>T, NM_001288718.2:c.598C>T, NM_001288718.1:c.598C>T, NM_001288719.2:c.508C>T, NM_001288719.1:c.508C>T, NM_001288720.2:c.598C>T, NM_001288720.1:c.598C>T, XM_047436588.1:c.598C>T, XM_047436590.1:c.508C>T, XM_047436589.1:c.598C>T, NM_001411103.1:c.598C>T, XM_047436591.1:c.508C>T, NP_003143.2:p.Arg200Trp, XP_005257681.1:p.Arg200Trp, NP_001275647.1:p.Arg200Trp, NP_001275648.1:p.Arg170Trp, NP_001275649.1:p.Arg200Trp, XP_047292544.1:p.Arg200Trp, XP_047292546.1:p.Arg170Trp, XP_047292545.1:p.Arg200Trp, XP_047292547.1:p.Arg170Trp

Select item 14794821409.

rs1479482140 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42301402 (GRCh38)
17:40453420 (GRCh37)
Canonical SPDI:: NC_000017.11:42301401:A:G
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
HGVS:: NC_000017.11:g.42301402A>G, NC_000017.10:g.40453420A>G, NM_003152.4:c.1117A>G, NM_003152.3:c.1117A>G, XM_005257624.4:c.1117A>G, NM_001288718.2:c.1117A>G, NM_001288718.1:c.1117A>G, NM_001288719.2:c.1027A>G, NM_001288719.1:c.1027A>G, NM_001288720.2:c.1117A>G, NM_001288720.1:c.1117A>G, XM_047436588.1:c.1117A>G, XM_047436590.1:c.1027A>G, XM_047436589.1:c.1117A>G, NM_001411103.1:c.1117A>G, XM_047436591.1:c.1027A>G, NP_003143.2:p.Ile373Val, XP_005257681.1:p.Ile373Val, NP_001275647.1:p.Ile373Val, NP_001275648.1:p.Ile343Val, NP_001275649.1:p.Ile373Val, XP_047292544.1:p.Ile373Val, XP_047292546.1:p.Ile343Val, XP_047292545.1:p.Ile373Val, XP_047292547.1:p.Ile343Val

Select item 147662490510.

rs1476624905 [Homo sapiens]

Variant type:: SNV
Alleles:: G>A [Show Flanks]
Chromosome:: 17:42306402 (GRCh38)
17:40458420 (GRCh37)
Canonical SPDI:: NC_000017.11:42306401:G:A
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: A=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42306402G>A, NC_000017.10:g.40458420G>A, NM_003152.4:c.1635G>A, NM_003152.3:c.1635G>A, XM_005257624.4:c.1635G>A, NM_001288718.2:c.1635G>A, NM_001288718.1:c.1635G>A, NM_001288719.2:c.1545G>A, NM_001288719.1:c.1545G>A, NM_001288720.2:c.1542G>A, NM_001288720.1:c.1542G>A, XM_047436588.1:c.1635G>A, XM_047436590.1:c.1545G>A, XM_047436589.1:c.1635G>A, NM_001411103.1:c.1635G>A, XM_047436591.1:c.1545G>A

Select item 147611943111.

rs1476119431 [Homo sapiens]

Variant type:: SNV
Alleles:: A>G [Show Flanks]
Chromosome:: 17:42301435 (GRCh38)
17:40453453 (GRCh37)
Canonical SPDI:: NC_000017.11:42301434:A:G
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42301435A>G, NC_000017.10:g.40453453A>G, NM_003152.4:c.1150A>G, NM_003152.3:c.1150A>G, XM_005257624.4:c.1150A>G, NM_001288718.2:c.1150A>G, NM_001288718.1:c.1150A>G, NM_001288719.2:c.1060A>G, NM_001288719.1:c.1060A>G, NM_001288720.2:c.1150A>G, NM_001288720.1:c.1150A>G, XM_047436588.1:c.1150A>G, XM_047436590.1:c.1060A>G, XM_047436589.1:c.1150A>G, NM_001411103.1:c.1150A>G, XM_047436591.1:c.1060A>G, NP_003143.2:p.Lys384Glu, XP_005257681.1:p.Lys384Glu, NP_001275647.1:p.Lys384Glu, NP_001275648.1:p.Lys354Glu, NP_001275649.1:p.Lys384Glu, XP_047292544.1:p.Lys384Glu, XP_047292546.1:p.Lys354Glu, XP_047292545.1:p.Lys384Glu, XP_047292547.1:p.Lys354Glu

Select item 147589796512.

rs1475897965 [Homo sapiens]

Variant type:: SNV
Alleles:: T>G [Show Flanks]
Chromosome:: 17:42304590 (GRCh38)
17:40456608 (GRCh37)
Canonical SPDI:: NC_000017.11:42304589:T:G
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: G=0./0 (ALFA)
G=0.000004/1 (GnomAD_exomes)
G=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42304590T>G, NC_000017.10:g.40456608T>G, NM_003152.4:c.1318T>G, NM_003152.3:c.1318T>G, XM_005257624.4:c.1318T>G, NM_001288718.2:c.1318T>G, NM_001288718.1:c.1318T>G, NM_001288719.2:c.1228T>G, NM_001288719.1:c.1228T>G, NM_001288720.2:c.1318T>G, NM_001288720.1:c.1318T>G, XM_047436588.1:c.1318T>G, XM_047436590.1:c.1228T>G, XM_047436589.1:c.1318T>G, NM_001411103.1:c.1318T>G, XM_047436591.1:c.1228T>G, NP_003143.2:p.Phe440Val, XP_005257681.1:p.Phe440Val, NP_001275647.1:p.Phe440Val, NP_001275648.1:p.Phe410Val, NP_001275649.1:p.Phe440Val, XP_047292544.1:p.Phe440Val, XP_047292546.1:p.Phe410Val, XP_047292545.1:p.Phe440Val, XP_047292547.1:p.Phe410Val

Select item 147292838013.

rs1472928380 [Homo sapiens]

Variant type:: SNV
Alleles:: C>A [Show Flanks]
Chromosome:: 17:42310660 (GRCh38)
17:40462678 (GRCh37)
Canonical SPDI:: NC_000017.11:42310659:C:A
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant,missense_variant
Validated:: by frequency,by cluster
MAF:: A=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42310660C>A, NC_000017.10:g.40462678C>A, NM_003152.4:c.2376C>A, NM_003152.3:c.2376C>A, XM_005257624.4:c.2216C>A, NM_001288718.2:c.2376C>A, NM_001288718.1:c.2376C>A, NM_001288719.2:c.2286C>A, NM_001288719.1:c.2286C>A, NM_001288720.2:c.2283C>A, NM_001288720.1:c.2283C>A, XM_047436588.1:c.2376C>A, XM_047436590.1:c.2286C>A, XM_047436589.1:c.2376C>A, NM_001411103.1:c.2216C>A, XM_047436591.1:c.2126C>A, XP_005257681.1:p.Pro739His, XP_047292547.1:p.Pro709His

Select item 147281103114.

rs1472811031 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42300250 (GRCh38)
17:40452268 (GRCh37)
Canonical SPDI:: NC_000017.11:42300249:C:T
Gene:: STAT5A (Varview)
Functional Consequence:: coding_sequence_variant,missense_variant
Validated:: by frequency,by alfa,by cluster
MAF:: T=0./0 (ALFA)
T=0.000014/2 (GnomAD)
T=0.00003/8 (TOPMED)
T=0.000062/4 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42300250C>T, NC_000017.10:g.40452268C>T, NM_003152.4:c.802C>T, NM_003152.3:c.802C>T, XM_005257624.4:c.802C>T, NM_001288718.2:c.802C>T, NM_001288718.1:c.802C>T, NM_001288719.2:c.712C>T, NM_001288719.1:c.712C>T, NM_001288720.2:c.802C>T, NM_001288720.1:c.802C>T, XM_047436588.1:c.802C>T, XM_047436590.1:c.712C>T, XM_047436589.1:c.802C>T, NM_001411103.1:c.802C>T, XM_047436591.1:c.712C>T, NP_003143.2:p.Pro268Ser, XP_005257681.1:p.Pro268Ser, NP_001275647.1:p.Pro268Ser, NP_001275648.1:p.Pro238Ser, NP_001275649.1:p.Pro268Ser, XP_047292544.1:p.Pro268Ser, XP_047292546.1:p.Pro238Ser, XP_047292545.1:p.Pro268Ser, XP_047292547.1:p.Pro238Ser

Select item 147167859715.

rs1471678597 [Homo sapiens]

Variant type:: SNV
Alleles:: T>C [Show Flanks]
Chromosome:: 17:42295633 (GRCh38)
17:40447651 (GRCh37)
Canonical SPDI:: NC_000017.11:42295632:T:C
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: C=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42295633T>C, NC_000017.10:g.40447651T>C, NM_003152.4:c.390T>C, NM_003152.3:c.390T>C, XM_005257624.4:c.390T>C, NM_001288718.2:c.390T>C, NM_001288718.1:c.390T>C, NM_001288719.2:c.300T>C, NM_001288719.1:c.300T>C, NM_001288720.2:c.390T>C, NM_001288720.1:c.390T>C, XM_047436588.1:c.390T>C, XM_047436590.1:c.300T>C, XM_047436589.1:c.390T>C, NM_001411103.1:c.390T>C, XM_047436591.1:c.300T>C

Select item 147050417516.

rs1470504175 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42307407 (GRCh38)
17:40459425 (GRCh37)
Canonical SPDI:: NC_000017.11:42307406:C:T
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: T=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42307407C>T, NC_000017.10:g.40459425C>T, NM_003152.4:c.1686C>T, NM_003152.3:c.1686C>T, XM_005257624.4:c.1686C>T, NM_001288718.2:c.1686C>T, NM_001288718.1:c.1686C>T, NM_001288719.2:c.1596C>T, NM_001288719.1:c.1596C>T, NM_001288720.2:c.1593C>T, NM_001288720.1:c.1593C>T, XM_047436588.1:c.1686C>T, XM_047436590.1:c.1596C>T, XM_047436589.1:c.1686C>T, NM_001411103.1:c.1686C>T, XM_047436591.1:c.1596C>T

Select item 146676594017.

rs1466765940 [Homo sapiens]

Variant type:: SNV
Alleles:: A>T [Show Flanks]
Chromosome:: 17:42292018 (GRCh38)
17:40444036 (GRCh37)
Canonical SPDI:: NC_000017.11:42292017:A:T
Gene:: STAT5A (Varview)
Functional Consequence:: intron_variant,missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42292018A>T, NC_000017.10:g.40444036A>T, NM_003152.4:c.332A>T, NM_003152.3:c.332A>T, XM_005257624.4:c.332A>T, NM_001288718.2:c.332A>T, NM_001288718.1:c.332A>T, NM_001288720.2:c.332A>T, NM_001288720.1:c.332A>T, XM_047436588.1:c.332A>T, XM_047436589.1:c.332A>T, NM_001411103.1:c.332A>T, NP_003143.2:p.His111Leu, XP_005257681.1:p.His111Leu, NP_001275647.1:p.His111Leu, NP_001275649.1:p.His111Leu, XP_047292544.1:p.His111Leu, XP_047292545.1:p.His111Leu

Select item 146557217018.

rs1465572170 [Homo sapiens]

Variant type:: SNV
Alleles:: C>T [Show Flanks]
Chromosome:: 17:42306280 (GRCh38)
17:40458298 (GRCh37)
Canonical SPDI:: NC_000017.11:42306279:C:T
Gene:: STAT5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa
MAF:: T=0./0 (ALFA)
T=0.000004/1 (TOPMED)
HGVS:: NC_000017.11:g.42306280C>T, NC_000017.10:g.40458298C>T, NM_003152.4:c.1513C>T, NM_003152.3:c.1513C>T, XM_005257624.4:c.1513C>T, NM_001288718.2:c.1513C>T, NM_001288718.1:c.1513C>T, NM_001288719.2:c.1423C>T, NM_001288719.1:c.1423C>T, NM_001288720.2:c.1420C>T, NM_001288720.1:c.1420C>T, XM_047436588.1:c.1513C>T, XM_047436590.1:c.1423C>T, XM_047436589.1:c.1513C>T, NM_001411103.1:c.1513C>T, XM_047436591.1:c.1423C>T, NP_003143.2:p.Pro505Ser, XP_005257681.1:p.Pro505Ser, NP_001275647.1:p.Pro505Ser, NP_001275648.1:p.Pro475Ser, NP_001275649.1:p.Pro474Ser, XP_047292544.1:p.Pro505Ser, XP_047292546.1:p.Pro475Ser, XP_047292545.1:p.Pro505Ser, XP_047292547.1:p.Pro475Ser

Select item 146383318919.

rs1463833189 [Homo sapiens]

Variant type:: SNV
Alleles:: G>C [Show Flanks]
Chromosome:: 17:42306327 (GRCh38)
17:40458345 (GRCh37)
Canonical SPDI:: NC_000017.11:42306326:G:C
Gene:: STAT5A (Varview)
Functional Consequence:: missense_variant,coding_sequence_variant
Validated:: by frequency,by alfa,by cluster
MAF:: C=0./0 (ALFA)
C=0.000004/1 (GnomAD_exomes)
C=0.000004/1 (TOPMED)
C=0.000007/1 (GnomAD)
HGVS:: NC_000017.11:g.42306327G>C, NC_000017.10:g.40458345G>C, NM_003152.4:c.1560G>C, NM_003152.3:c.1560G>C, XM_005257624.4:c.1560G>C, NM_001288718.2:c.1560G>C, NM_001288718.1:c.1560G>C, NM_001288719.2:c.1470G>C, NM_001288719.1:c.1470G>C, NM_001288720.2:c.1467G>C, NM_001288720.1:c.1467G>C, XM_047436588.1:c.1560G>C, XM_047436590.1:c.1470G>C, XM_047436589.1:c.1560G>C, NM_001411103.1:c.1560G>C, XM_047436591.1:c.1470G>C, NP_003143.2:p.Gln520His, XP_005257681.1:p.Gln520His, NP_001275647.1:p.Gln520His, NP_001275648.1:p.Gln490His, NP_001275649.1:p.Gln489His, XP_047292544.1:p.Gln520His, XP_047292546.1:p.Gln490His, XP_047292545.1:p.Gln520His, XP_047292547.1:p.Gln490His

Select item 146200225720.

rs1462002257 [Homo sapiens]

Variant type:: SNV
Alleles:: C>G [Show Flanks]
Chromosome:: 17:42301422 (GRCh38)
17:40453440 (GRCh37)
Canonical SPDI:: NC_000017.11:42301421:C:G
Gene:: STAT5A (Varview)
Functional Consequence:: synonymous_variant,coding_sequence_variant
Validated:: by frequency
MAF:: G=0.000004/1 (GnomAD_exomes)
HGVS:: NC_000017.11:g.42301422C>G, NC_000017.10:g.40453440C>G, NM_003152.4:c.1137C>G, NM_003152.3:c.1137C>G, XM_005257624.4:c.1137C>G, NM_001288718.2:c.1137C>G, NM_001288718.1:c.1137C>G, NM_001288719.2:c.1047C>G, NM_001288719.1:c.1047C>G, NM_001288720.2:c.1137C>G, NM_001288720.1:c.1137C>G, XM_047436588.1:c.1137C>G, XM_047436590.1:c.1047C>G, XM_047436589.1:c.1137C>G, NM_001411103.1:c.1137C>G, XM_047436591.1:c.1047C>G

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