Canonical Allele Identifier: CA2691985599
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945523C>A , CM000671.2:g.128945523C>A GRCh38
NC_000009.11:g.131707802C>A , CM000671.1:g.131707802C>A GRCh37
NC_000009.10:g.130747623C>A NCBI36
NG_017009.1:g.7211G>T , LRG_744:g.7211G>T
NG_033111.1:g.2831C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3666C>A ENSP00000417556.2:n.39-3666C>A