HGVS | Genome Assembly |
---|---|
NC_000001.11:g.169554881A>C , CM000663.2:g.169554881A>C | GRCh38 |
NC_000001.10:g.169524119A>C , CM000663.1:g.169524119A>C | GRCh37 |
NC_000001.9:g.167790743A>C | NCBI36 |
NG_011806.1:g.36651T>G , LRG_553:g.36651T>G |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000367797.9:c.1118+301T>G MANE Select | ENSP00000356771.3:n.1118+301T>G | |
ENST00000367796.3:c.1118+301T>G | ENSP00000356770.3:n.1118+301T>G | |
ENST00000367797.7:c.1118+301T>G | ENSP00000356771.3:n.1118+301T>G | |
NM_000130.4:c.1118+301T>G , LRG_553t1:c.1118+301T>G | NP_000121.2:n.1118+301T>G | |
XM_017000660.2:c.707+301T>G | XP_016856149.1:n.707+301T>G | |
NM_000130.5:c.1118+301T>G MANE Select | NP_000121.2:n.1118+301T>G |