Linked Data
dbSNP Id:
rs1190836510
gnomAD v2:
1-242052871-G-A
gnomAD v3:
1-241889569-G-A
gnomAD v4:
1-241889569-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.241889569G>A , CM000663.2:g.241889569G>A | GRCh38 |
| NC_000001.10:g.242052871G>A , CM000663.1:g.242052871G>A | GRCh37 |
| NC_000001.9:g.240119494G>A | NCBI36 |
| NG_029100.1:g.46379G>A | |
| NG_029100.2:g.46379G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000366548.8:c.2510G>A MANE Select | ENSP00000355506.3:p.Cys837Tyr | |
| ENST00000348581.9:c.2510G>A | ENSP00000311873.5:p.Cys837Tyr | |
| ENST00000366548.7:c.2510G>A | ENSP00000355506.3:p.Cys837Tyr | |
| ENST00000518483.5:c.*96G>A | ENSP00000430251.1:n.*96G>A | |
| ENST00000518741.1:n.152-2955G>A | ||
| ENST00000521202.2:c.603G>A | ||
| NM_003686.4:c.*96G>A | NP_003677.4:n.*96G>A | |
| NM_006027.4:c.2510G>A | NP_006018.4:p.Cys837Tyr | |
| NM_130398.3:c.2510G>A | NP_569082.2:p.Cys837Tyr | |
| XM_005273350.2:c.2507G>A | XP_005273407.1:p.Cys836Tyr | |
| XM_006711840.1:c.2510G>A | XP_006711903.1:p.Cys837Tyr | |
| XM_011544321.1:c.2510G>A | XP_011542623.1:p.Cys837Tyr | |
| XM_011544322.1:c.2510G>A | XP_011542624.1:p.Cys837Tyr | |
| XM_011544323.1:c.2507G>A | XP_011542625.1:p.Cys836Tyr | |
| XM_011544324.1:c.2390G>A | XP_011542626.1:p.Cys797Tyr | |
| XM_011544325.1:c.1547G>A | XP_011542627.1:p.Cys516Tyr | |
| XR_949162.1:n.2990+4062G>A | ||
| NM_001319224.1:c.2507G>A | NP_001306153.1:p.Cys836Tyr | |
| XM_006711840.2:c.2510G>A | XP_006711903.1:p.Cys837Tyr | |
| XM_011544321.2:c.2510G>A | XP_011542623.1:p.Cys837Tyr | |
| XM_011544323.2:c.2507G>A | XP_011542625.1:p.Cys836Tyr | |
| XM_011544324.2:c.2390G>A | XP_011542626.1:p.Cys797Tyr | |
| XM_011544325.2:c.1547G>A | XP_011542627.1:p.Cys516Tyr | |
| XM_017002793.2:c.2390G>A | XP_016858282.1:p.Cys797Tyr | |
| NM_130398.4:c.2510G>A MANE Select | NP_569082.2:p.Cys837Tyr | |
| NM_001319224.2:c.2507G>A | NP_001306153.1:p.Cys836Tyr |