Linked Data
dbSNP Id:
rs11809207
gnomAD v2:
1-26521140-G-A
gnomAD v3:
1-26194649-G-A
gnomAD v4:
1-26194649-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.26194649G>A , CM000663.2:g.26194649G>A | GRCh38 |
| NC_000001.10:g.26521140G>A , CM000663.1:g.26521140G>A | GRCh37 |
| NC_000001.9:g.26393727G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000456354.7:c.459+761G>A MANE Select | ENSP00000390423.3:n.459+761G>A | |
| ENST00000338855.6:c.459+761G>A | ENSP00000341006.2:n.459+761G>A | |
| ENST00000456354.6:c.459+761G>A | ENSP00000390423.2:n.459+761G>A | |
| ENST00000518899.5:c.459+761G>A | ENSP00000429464.1:n.459+761G>A | |
| ENST00000611853.1:c.426+761G>A | ENSP00000477936.1:n.426+761G>A | |
| NM_198137.1:c.459+761G>A | NP_937770.1:n.459+761G>A | |
| XM_011541432.1:c.459+761G>A | XP_011539734.1:n.459+761G>A | |
| XM_011541433.1:c.459+761G>A | XP_011539735.1:n.459+761G>A | |
| XM_011541432.3:c.459+761G>A | XP_011539734.1:n.459+761G>A | |
| XM_011541433.2:c.459+761G>A | XP_011539735.1:n.459+761G>A | |
| NM_198137.2:c.459+761G>A MANE Select | NP_937770.1:n.459+761G>A |