HGVS | Genome Assembly |
---|---|
NC_000004.12:g.67740233G>A , CM000666.2:g.67740233G>A | GRCh38 |
NC_000004.11:g.68605951G>A , CM000666.1:g.68605951G>A | GRCh37 |
NC_000004.10:g.68288546G>A | NCBI36 |
NG_009293.1:g.20854C>T |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000226413.5:c.*247C>T MANE Select | ENSP00000226413.5:n.*247C>T | |
ENST00000226413.4:c.*247C>T | ENSP00000226413.4:n.*247C>T | |
NM_000406.2:c.*247C>T | NP_000397.1:n.*247C>T | |
NM_001012763.1:c.*356C>T | NP_001012781.1:n.*356C>T | |
NM_000406.3:c.*247C>T MANE Select | NP_000397.1:n.*247C>T | |
NM_001012763.2:c.*356C>T | NP_001012781.1:n.*356C>T |