Canonical Allele Identifier: CA2786033431
Gene:

Genomic Alleles

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

Transcript Alleles

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