HGVS | Genome Assembly |
---|---|
NC_000006.12:g.39066296G>A , CM000668.2:g.39066296G>A | GRCh38 |
NC_000006.11:g.39034072G>A , CM000668.1:g.39034072G>A | GRCh37 |
NC_000006.10:g.39142050G>A | NCBI36 |
HGVS | Amino-acid Change | |
---|---|---|
ENST00000373256.5:c.502G>A MANE Select | ENSP00000362353.4:p.Gly168Ser | |
ENST00000373256.4:c.502G>A | ENSP00000362353.4:p.Gly168Ser | |
NM_002062.3:c.502G>A | NP_002053.3:p.Gly168Ser | |
XR_926153.1:n.562G>A | ||
XR_926154.1:n.562G>A | ||
XR_926155.1:n.562G>A | ||
NM_002062.4:c.502G>A | NP_002053.3:p.Gly168Ser | |
NR_136562.1:n.562G>A | ||
NR_136563.1:n.562G>A | ||
XM_017010750.1:c.517G>A | XP_016866239.1:p.Gly173Ser | |
XM_017010751.1:c.517G>A | XP_016866240.1:p.Gly173Ser | |
XR_001743346.1:n.1097G>A | ||
XR_001743347.1:n.1097G>A | ||
XR_001743348.1:n.1097G>A | ||
NM_002062.5:c.502G>A MANE Select | NP_002053.3:p.Gly168Ser | |
NR_136562.2:n.562G>A | ||
NR_136563.2:n.562G>A |