HGVS | Genome Assembly |
---|---|
NC_000002.12:g.73640815C>T , CM000664.2:g.73640815C>T | GRCh38 |
NC_000002.11:g.73867942C>T , CM000664.1:g.73867942C>T | GRCh37 |
NC_000002.10:g.73721450C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000272425.4:c.*130G>A MANE Select | ENSP00000272425.3:n.*130G>A | |
NM_003960.3:c.*130G>A | NP_003951.3:n.*130G>A | |
NM_003960.4:c.*130G>A MANE Select | NP_003951.3:n.*130G>A |