Canonical Allele Identifier: CA254922
Gene:

Identifiers and link-outs to other resources

dbSNP Id: rs137852558

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.634644G>T , CM000685.2:g.634644G>T GRCh38
NC_000023.10:g.595379G>T , CM000685.1:g.595379G>T GRCh37
NC_000023.9:g.515379G>T NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000334060.8:c.304G>T ENSP00000335505.3:p.Glu102Ter
ENST00000381575.6:c.304G>T ENSP00000370987.1:p.Glu102Ter
ENST00000381578.6:c.304G>T ENSP00000370990.1:p.Glu102Ter
ENST00000554971.6:c.304G>T ENSP00000452016.1:p.Glu102Ter