Canonical Allele Identifier: CA2691985594
Gene:

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000009.12:g.128945516A>C , CM000671.2:g.128945516A>C GRCh38
NC_000009.11:g.131707795A>C , CM000671.1:g.131707795A>C GRCh37
NC_000009.10:g.130747616A>C NCBI36
NG_017009.1:g.7218T>G , LRG_744:g.7218T>G
NG_033111.1:g.2824A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000482796.1:c.39-3673A>C ENSP00000417556.2:n.39-3673A>C