Canonical Allele Identifier: CA1548139203
Gene: MAP3K1 HGNC NCBI

Linked Data

dbSNP Id: rs1748205409
gnomAD v4: 5-56881517-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881517T>C , CM000667.2:g.56881517T>C GRCh38
NC_000005.9:g.56177344T>C , CM000667.1:g.56177344T>C GRCh37
NC_000005.8:g.56213101T>C NCBI36
NG_031884.1:g.71445T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000399503.4:c.2370-53T>C MANE Select ENSP00000382423.3:n.2370-53T>C
ENST00000399503.3:c.2370-53T>C ENSP00000382423.3:n.2370-53T>C
NM_005921.1:c.2370-53T>C NP_005912.1:n.2370-53T>C
XM_005248519.3:c.1992-53T>C XP_005248576.2:n.1992-53T>C
XM_011543406.1:c.2115-53T>C XP_011541708.1:n.2115-53T>C
XM_011543407.1:c.2091-53T>C XP_011541709.1:n.2091-53T>C
XM_011543408.1:c.2370-53T>C XP_011541710.1:n.2370-53T>C
XM_017009484.1:c.1959-53T>C XP_016864973.1:n.1959-53T>C
XM_017009485.1:c.1881-53T>C XP_016864974.1:n.1881-53T>C
XR_001742068.2:n.2401-53T>C
NM_005921.2:c.2370-53T>C MANE Select NP_005912.1:n.2370-53T>C