HGVS | Genome Assembly |
---|---|
NC_000009.12:g.21140608G>A , CM000671.2:g.21140608G>A | GRCh38 |
NC_000009.11:g.21140607G>A , CM000671.1:g.21140607G>A | GRCh37 |
NC_000009.10:g.21130607G>A | NCBI36 |
HGVS | Amino-acid change | |
---|---|---|
ENST00000380229.3:c.*375C>T | ENSP00000369578.2:n.*375C>T |