HGVS | Genome Assembly |
---|---|
NC_000003.12:g.196351556C>T , CM000665.2:g.196351556C>T | GRCh38 |
NC_000003.11:g.196078427C>T , CM000665.1:g.196078427C>T | GRCh37 |
NC_000003.10:g.197562824C>T | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000296328.9:c.*5129G>A MANE Select | ENSP00000296328.4:n.*5129G>A | |
ENST00000296328.8:c.*5129G>A | ENSP00000296328.4:n.*5129G>A | |
XM_011512670.2:c.*5129G>A | XP_011510972.1:n.*5129G>A | |
XM_011512671.2:c.*5129G>A | XP_011510973.1:n.*5129G>A | |
NM_015562.2:c.*5129G>A MANE Select | NP_056377.1:n.*5129G>A |