Canonical Allele Identifier: CA3272999
Gene: MAP3K1 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 518364
ClinVar RCV Id: RCV000605336
dbSNP Id: rs702689

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.56881616G>A , CM000667.2:g.56881616G>A GRCh38
NC_000005.9:g.56177443G>A , CM000667.1:g.56177443G>A GRCh37
NC_000005.8:g.56213200G>A NCBI36
NG_031884.1:g.71544G>A

Transcript Alleles

HGVS Amino-acid change
NM_005921.1:c.2416G>A VV NP_005912.1:p.Asp806Asn
XM_005248519.3:c.2038G>A XP_005248576.2:p.Asp680Asn
XM_011543406.1:c.2161G>A XP_011541708.1:p.Asp721Asn
XM_011543407.1:c.2137G>A XP_011541709.1:p.Asp713Asn
XM_011543408.1:c.2416G>A XP_011541710.1:p.Asp806Asn
XM_017009484.1:c.2005G>A XP_016864973.1:p.Asp669Asn
XM_017009485.1:c.1927G>A XP_016864974.1:p.Asp643Asn
XR_001742068.2:n.2447G>A
NM_005921.2:c.2416G>A VV MANE Preferred NP_005912.1:p.Asp806Asn
ENST00000399503.3:n.2416G>A ENSP00000382423.3:p.Asp806Asn