HGVS | Genome Assembly |
---|---|
NC_000021.9:g.43416846C>T , CM000683.2:g.43416846C>T | GRCh38 |
NG_052009.1:g.15287G>A |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000270162.8:c.2248G>A MANE Select | ENSP00000270162.6:p.Ala750Thr | |
ENST00000270162.6:c.2248G>A | ENSP00000270162.6:p.Ala750Thr | |
NM_173354.3:c.2248G>A | NP_775490.2:p.Ala750Thr | |
XM_011529474.1:c.2101G>A | XP_011527776.1:p.Ala701Thr | |
NM_173354.4:c.2248G>A | NP_775490.2:p.Ala750Thr | |
XM_011529474.2:c.2101G>A | XP_011527776.1:p.Ala701Thr | |
NM_173354.5:c.2248G>A MANE Select | NP_775490.2:p.Ala750Thr |