Canonical Allele Identifier: CA3273032
Gene: MAP3K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1631059
ClinVar RCV Id: RCV002128010
dbSNP Id: rs149242419
ExAC: 5:56177644 G / A
gnomAD v2: 5-56177644-G-A
gnomAD v3: 5-56881817-G-A
gnomAD v4: 5-56881817-G-A
MyVariant Identifiers: chr5:g.56177644G>A (hg19) chr5:g.56881817G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881817G>A , CM000667.2:g.56881817G>A GRCh38
NC_000005.9:g.56177644G>A , CM000667.1:g.56177644G>A GRCh37
NC_000005.8:g.56213401G>A NCBI36
NG_031884.1:g.71745G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000399503.4:c.2617G>A MANE Select ENSP00000382423.3:p.Val873Ile
ENST00000399503.3:c.2617G>A ENSP00000382423.3:p.Val873Ile
NM_005921.1:c.2617G>A NP_005912.1:p.Val873Ile
XM_005248519.3:c.2239G>A XP_005248576.2:p.Val747Ile
XM_011543406.1:c.2362G>A XP_011541708.1:p.Val788Ile
XM_011543407.1:c.2338G>A XP_011541709.1:p.Val780Ile
XM_011543408.1:c.2617G>A XP_011541710.1:p.Val873Ile
XM_017009484.1:c.2206G>A XP_016864973.1:p.Val736Ile
XM_017009485.1:c.2128G>A XP_016864974.1:p.Val710Ile
XR_001742068.2:n.2648G>A
NM_005921.2:c.2617G>A MANE Select NP_005912.1:p.Val873Ile
Search 100 bp 5'
Search 100 bp 3'