HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740441C>A , CM000666.2:g.67740441C>A | GRCh38 |
NC_000004.11:g.68606159C>A , CM000666.1:g.68606159C>A | GRCh37 |
NC_000004.10:g.68288754C>A | NCBI36 |
NG_009293.1:g.20646G>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*39G>T MANE Select | ENSP00000226413.5:n.*39G>T | |
ENST00000226413.4:c.*39G>T | ENSP00000226413.4:n.*39G>T | |
NM_000406.2:c.*39G>T | NP_000397.1:n.*39G>T | |
NM_001012763.1:c.*148G>T | NP_001012781.1:n.*148G>T | |
NM_000406.3:c.*39G>T MANE Select | NP_000397.1:n.*39G>T | |
NM_001012763.2:c.*148G>T | NP_001012781.1:n.*148G>T |