HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57450195G>T , CM000674.2:g.57450195G>T | GRCh38 |
NC_000012.11:g.57843978G>T , CM000674.1:g.57843978G>T | GRCh37 |
NC_000012.10:g.56130245G>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309668.3:c.*173G>T MANE Select | ENSP00000308716.2:n.*173G>T | |
ENST00000309668.2:c.*173G>T | ENSP00000308716.2:n.*173G>T | |
NM_005538.3:c.*173G>T | NP_005529.1:n.*173G>T | |
NM_005538.4:c.*173G>T MANE Select | NP_005529.1:n.*173G>T |