Canonical Allele Identifier: CA44512352
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs113994031

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.27367536A>C , CM000664.2:g.27367536A>C GRCh38
NC_000002.10:g.27443907A>C NCBI36
NC_000002.11:g.27590403A>C , CM000664.1:g.27590403A>C GRCh37
NG_009305.1:g.7922T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000347454.8:c.806T>G ENSP00000233552.5:p.Leu269Arg
ENST00000405940.6:c.*72T>G ENSP00000384375.2:p.=
ENST00000417567.1:n.382T>G
ENST00000445933.6:c.803T>G ENSP00000394397.2:p.Leu268Arg
ENST00000451130.6:n.866T>G ENSP00000394869.2:p.Leu289Arg
ENST00000475582.5:n.2315T>G
ENST00000493344.6:c.869T>G ENSP00000429323.1:p.Leu290Arg
ENST00000616081.4:c.797T>G ENSP00000477710.1:p.Leu266Arg
ENST00000622434.4:c.*72T>G ENSP00000479991.1:p.=
NM_001034116.1:c.806T>G NP_001029288.1:p.Leu269Arg
NM_015636.3:c.803T>G NP_056451.3:p.Leu268Arg
NM_172195.3:c.866T>G NP_751945.2:p.Leu289Arg
XM_005264632.1:c.761T>G XP_005264689.1:p.Leu254Arg
XM_006712132.1:c.758T>G XP_006712195.1:p.Leu253Arg
XM_011533147.1:c.188T>G XP_011531449.1:p.Leu63Arg