HGVS | Genome Assembly |
---|---|
NC_000002.12:g.72891662T>A , CM000664.2:g.72891662T>A | GRCh38 |
NC_000002.11:g.73118791T>A , CM000664.1:g.73118791T>A | GRCh37 |
NC_000002.10:g.72972299T>A | NCBI36 |
NG_008234.1:g.9280T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234454.6:c.*125T>A MANE Select | ENSP00000234454.5:n.*125T>A | |
ENST00000234454.5:c.*125T>A | ENSP00000234454.5:n.*125T>A | |
ENST00000498749.1:n.856T>A | ||
NM_003124.4:c.*125T>A | NP_003115.1:n.*125T>A | |
NM_003124.5:c.*125T>A MANE Select | NP_003115.1:n.*125T>A |