HGVS | Genome Assembly |
---|---|
NC_000002.12:g.216205739C>A , CM000664.2:g.216205739C>A | GRCh38 |
NC_000002.11:g.217070462C>A , CM000664.1:g.217070462C>A | GRCh37 |
NC_000002.10:g.216778707C>A | NCBI36 |
NG_029780.1:g.101443C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000392132.7:c.*537C>A MANE Select | ENSP00000375977.2:n.*537C>A | |
ENST00000392132.6:c.*537C>A | ENSP00000375977.2:n.*537C>A | |
ENST00000392133.7:c.*537C>A | ENSP00000375978.3:n.*537C>A | |
NM_021141.3:c.*537C>A | NP_066964.1:n.*537C>A | |
NM_021141.4:c.*537C>A MANE Select | NP_066964.1:n.*537C>A |