Linked Data
dbSNP Id:
rs773922925
ExAC:
18:21456325 G / A
gnomAD v2:
18-21456325-G-A
gnomAD v4:
18-23876361-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.23876361G>A , CM000680.2:g.23876361G>A | GRCh38 |
| NC_000018.9:g.21456325G>A , CM000680.1:g.21456325G>A | GRCh37 |
| NC_000018.8:g.19710323G>A | NCBI36 |
| NG_007853.2:g.191764G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269217.11:c.239G>A MANE Plus Clinical | ENSP00000269217.5:p.Cys80Tyr | |
| ENST00000313654.14:c.5066G>A MANE Select | ENSP00000324532.8:p.Cys1689Tyr | |
| ENST00000649721.1:c.1958G>A | ENSP00000497885.1:p.Cys653Tyr | |
| ENST00000269217.10:c.239G>A | ENSP00000269217.5:p.Cys80Tyr | |
| ENST00000313654.13:c.5066G>A | ENSP00000324532.8:p.Cys1689Tyr | |
| ENST00000399516.7:c.5066G>A | ENSP00000382432.2:p.Cys1689Tyr | |
| ENST00000587184.5:c.239G>A | ENSP00000466557.1:p.Cys80Tyr | |
| NM_000227.4:c.239G>A | NP_000218.3:p.Cys80Tyr | |
| NM_001127717.2:c.5066G>A | NP_001121189.2:p.Cys1689Tyr | |
| NM_001127718.2:c.239G>A | NP_001121190.2:p.Cys80Tyr | |
| NM_198129.2:c.5066G>A | NP_937762.2:p.Cys1689Tyr | |
| XM_011525978.1:c.5093G>A | XP_011524280.1:p.Cys1698Tyr | |
| XM_011525979.1:c.5084G>A | XP_011524281.1:p.Cys1695Tyr | |
| XM_011525980.1:c.5075G>A | XP_011524282.1:p.Cys1692Tyr | |
| XM_011525981.1:c.4961G>A | XP_011524283.1:p.Cys1654Tyr | |
| XM_011525982.1:c.5093G>A | XP_011524284.1:p.Cys1698Tyr | |
| XM_011525978.2:c.5093G>A | XP_011524280.1:p.Cys1698Tyr | |
| XM_011525979.2:c.5084G>A | XP_011524281.1:p.Cys1695Tyr | |
| XM_011525980.2:c.5075G>A | XP_011524282.1:p.Cys1692Tyr | |
| XM_011525981.2:c.4961G>A | XP_011524283.1:p.Cys1654Tyr | |
| XM_011525982.2:c.5093G>A | XP_011524284.1:p.Cys1698Tyr | |
| XM_017025743.1:c.2945G>A | XP_016881232.1:p.Cys982Tyr | |
| XM_017025744.1:c.635G>A | XP_016881233.1:p.Cys212Tyr | |
| XR_001753199.1:n.5334G>A | ||
| NM_000227.5:c.239G>A | NP_000218.3:p.Cys80Tyr | |
| NM_001127717.3:c.5066G>A | NP_001121189.2:p.Cys1689Tyr | |
| NM_001127718.3:c.239G>A | NP_001121190.2:p.Cys80Tyr | |
| NM_198129.3:c.5066G>A | NP_937762.2:p.Cys1689Tyr | |
| NM_000227.6:c.239G>A MANE Plus Clinical | NP_000218.3:p.Cys80Tyr | |
| NM_001127717.4:c.5066G>A | NP_001121189.2:p.Cys1689Tyr | |
| NM_001127718.4:c.239G>A | NP_001121190.2:p.Cys80Tyr | |
| NM_198129.4:c.5066G>A MANE Select | NP_937762.2:p.Cys1689Tyr |