HGVS | Genome Assembly |
---|---|
NC_000002.12:g.184937516C>A , CM000664.2:g.184937516C>A | GRCh38 |
NC_000002.11:g.185802243C>A , CM000664.1:g.185802243C>A | GRCh37 |
NC_000002.10:g.185510488C>A | NCBI36 |
NG_046950.1:g.344151C>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000302277.7:c.2120C>A MANE Select | ENSP00000303252.6:p.Thr707Lys | |
ENST00000302277.6:c.2120C>A | ENSP00000303252.6:p.Thr707Lys | |
ENST00000613975.1:c.1865C>A | ENSP00000483032.1:p.Thr622Lys | |
NM_194250.1:c.2120C>A | NP_919226.1:p.Thr707Lys | |
NM_194250.2:c.2120C>A MANE Select | NP_919226.1:p.Thr707Lys |