Canonical Allele Identifier: CA3272991
Gene: MAP3K1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1178571
ClinVar RCV Id: RCV001534887
dbSNP Id: rs114561358
gnomAD v2: 5-56177369-T-C
gnomAD v3: 5-56881542-T-C
gnomAD v4: 5-56881542-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881542T>C , CM000667.2:g.56881542T>C GRCh38
NC_000005.9:g.56177369T>C , CM000667.1:g.56177369T>C GRCh37
NC_000005.8:g.56213126T>C NCBI36
NG_031884.1:g.71470T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.2370-28T>C MANE Select ENSP00000382423.3:n.2370-28T>C
ENST00000399503.3:c.2370-28T>C ENSP00000382423.3:n.2370-28T>C
NM_005921.1:c.2370-28T>C NP_005912.1:n.2370-28T>C
XM_005248519.3:c.1992-28T>C XP_005248576.2:n.1992-28T>C
XM_011543406.1:c.2115-28T>C XP_011541708.1:n.2115-28T>C
XM_011543407.1:c.2091-28T>C XP_011541709.1:n.2091-28T>C
XM_011543408.1:c.2370-28T>C XP_011541710.1:n.2370-28T>C
XM_017009484.1:c.1959-28T>C XP_016864973.1:n.1959-28T>C
XM_017009485.1:c.1881-28T>C XP_016864974.1:n.1881-28T>C
XR_001742068.2:n.2401-28T>C
NM_005921.2:c.2370-28T>C MANE Select NP_005912.1:n.2370-28T>C