HGVS | Genome Assembly |
---|---|
NC_000001.11:g.192812186T>A , CM000663.2:g.192812186T>A | GRCh38 |
NC_000001.10:g.192781316T>A , CM000663.1:g.192781316T>A | GRCh37 |
NC_000001.9:g.191047939T>A | NCBI36 |
NG_012800.1:g.8148T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000235382.7:c.*590T>A MANE Select | ENSP00000235382.5:n.*590T>A | |
ENST00000235382.6:c.*590T>A | ENSP00000235382.5:n.*590T>A | |
NM_002923.3:c.*590T>A | NP_002914.1:n.*590T>A | |
NM_002923.4:c.*590T>A MANE Select | NP_002914.1:n.*590T>A |