Canonical Allele Identifier: CA3273031

Gene: MAP3K1

Linked Data

• ClinVar Variation Id: 3122801
• ClinVar RCV Id: RCV004416189
• dbSNP Id: rs766195624
• ExAC: 5:56177642 G / T
• gnomAD v2: 5-56177642-G-T
• gnomAD v3: 5-56881815-G-T
• gnomAD v4: 5-56881815-G-T
• MyVariant Identifiers: chr5:g.56177642G>T (hg19) ; chr5:g.56881815G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.56881815G>T , CM000667.2:g.56881815G>T	GRCh38
NC_000005.9:g.56177642G>T , CM000667.1:g.56177642G>T	GRCh37
NC_000005.8:g.56213399G>T	NCBI36
NG_031884.1:g.71743G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000399503.4:c.2615G>T MANE Select	ENSP00000382423.3:p.Gly872Val
ENST00000399503.3:c.2615G>T	ENSP00000382423.3:p.Gly872Val
NM_005921.1:c.2615G>T	NP_005912.1:p.Gly872Val
XM_005248519.3:c.2237G>T	XP_005248576.2:p.Gly746Val
XM_011543406.1:c.2360G>T	XP_011541708.1:p.Gly787Val
XM_011543407.1:c.2336G>T	XP_011541709.1:p.Gly779Val
XM_011543408.1:c.2615G>T	XP_011541710.1:p.Gly872Val
XM_017009484.1:c.2204G>T	XP_016864973.1:p.Gly735Val
XM_017009485.1:c.2126G>T	XP_016864974.1:p.Gly709Val
XR_001742068.2:n.2646G>T
NM_005921.2:c.2615G>T MANE Select	NP_005912.1:p.Gly872Val