HGVS | Genome Assembly |
---|---|
NC_000012.12:g.114670377A>T , CM000674.2:g.114670377A>T | GRCh38 |
NC_000012.11:g.115108182A>T , CM000674.1:g.115108182A>T | GRCh37 |
NC_000012.10:g.113592565A>T | NCBI36 |
NG_008315.1:g.18788T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000349155.7:c.*1464T>A MANE Select | ENSP00000257567.2:n.*1464T>A | |
ENST00000257566.7:c.*1464T>A | ENSP00000257566.3:n.*1464T>A | |
ENST00000349155.6:c.*1464T>A | ENSP00000257567.2:n.*1464T>A | |
NM_005996.3:c.*1464T>A | NP_005987.3:n.*1464T>A | |
NM_016569.3:c.*1464T>A | NP_057653.3:n.*1464T>A | |
NM_005996.4:c.*1464T>A MANE Select | NP_005987.3:n.*1464T>A | |
NM_016569.4:c.*1464T>A | NP_057653.3:n.*1464T>A |