HGVS | Genome Assembly |
---|---|
NC_000002.12:g.72891683C>A , CM000664.2:g.72891683C>A | GRCh38 |
NC_000002.11:g.73118812C>A , CM000664.1:g.73118812C>A | GRCh37 |
NC_000002.10:g.72972320C>A | NCBI36 |
NG_008234.1:g.9301C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000234454.6:c.*146C>A MANE Select | ENSP00000234454.5:n.*146C>A | |
ENST00000234454.5:c.*146C>A | ENSP00000234454.5:n.*146C>A | |
ENST00000498749.1:n.877C>A | ||
NM_003124.4:c.*146C>A | NP_003115.1:n.*146C>A | |
NM_003124.5:c.*146C>A MANE Select | NP_003115.1:n.*146C>A |