HGVS | Genome Assembly |
---|---|
NC_000012.12:g.57450170T>C , CM000674.2:g.57450170T>C | GRCh38 |
NC_000012.11:g.57843953T>C , CM000674.1:g.57843953T>C | GRCh37 |
NC_000012.10:g.56130220T>C | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000309668.3:c.*148T>C MANE Select | ENSP00000308716.2:n.*148T>C | |
ENST00000309668.2:c.*148T>C | ENSP00000308716.2:n.*148T>C | |
NM_005538.3:c.*148T>C | NP_005529.1:n.*148T>C | |
NM_005538.4:c.*148T>C MANE Select | NP_005529.1:n.*148T>C |