HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184913702G>A , CM000664.2:g.184913702G>A | GRCh38 |
NC_000002.11:g.185778429G>A , CM000664.1:g.185778429G>A | GRCh37 |
NC_000002.10:g.185486674G>A | NCBI36 |
NG_046950.1:g.320337G>A |
HGVS | Amino-acid change | |
---|---|---|
ENST00000302277.7:c.256-19901G>A MANE Select | ENSP00000303252.6:n.256-19901G>A | |
ENST00000302277.6:c.256-19901G>A | ENSP00000303252.6:n.256-19901G>A | |
ENST00000613975.1:c.1-19901G>A | ENSP00000483032.1:n.1-19901G>A | |
NM_194250.1:c.256-19901G>A | NP_919226.1:n.256-19901G>A | |
NM_194250.2:c.256-19901G>A MANE Select | NP_919226.1:n.256-19901G>A |