HGVS | Genome Assembly |
---|---|
NC_000002.12:g.72891518T>A , CM000664.2:g.72891518T>A | GRCh38 |
NC_000002.11:g.73118647T>A , CM000664.1:g.73118647T>A | GRCh37 |
NC_000002.10:g.72972155T>A | NCBI36 |
NG_008234.1:g.9136T>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234454.6:c.767T>A MANE Select | ENSP00000234454.5:p.Val256Glu | |
ENST00000234454.5:c.767T>A | ENSP00000234454.5:p.Val256Glu | |
ENST00000498749.1:n.712T>A | ||
NM_003124.4:c.767T>A | NP_003115.1:p.Val256Glu | |
NM_003124.5:c.767T>A MANE Select | NP_003115.1:p.Val256Glu |