Linked Data
ClinVar Variation Id:
774393
dbSNP Id:
rs41267265
ExAC:
1:36479290 G / A
gnomAD v2:
1-36479290-G-A
gnomAD v3:
1-36013689-G-A
gnomAD v4:
1-36013689-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.36013689G>A , CM000663.2:g.36013689G>A | GRCh38 |
| NC_000001.10:g.36479290G>A , CM000663.1:g.36479290G>A | GRCh37 |
| NC_000001.9:g.36251877G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373191.9:c.1209G>A MANE Select | ENSP00000362287.3:p.Arg403= | |
| ENST00000246314.10:c.507G>A | ENSP00000246314.6:p.Arg169= | |
| ENST00000373191.8:c.1209G>A | ENSP00000362287.3:p.Arg403= | |
| ENST00000634486.1:c.*1204G>A | ENSP00000489286.1:n.*1204G>A | |
| NM_024852.3:c.1209G>A | NP_079128.2:p.Arg403= | |
| NM_177422.2:c.507G>A | NP_803171.1:p.Arg169= | |
| XM_005270575.2:c.1209G>A | XP_005270632.1:p.Arg403= | |
| XM_005270576.2:c.384G>A | XP_005270633.1:p.Arg128= | |
| XM_011540879.1:c.1164G>A | XP_011539181.1:p.Arg388= | |
| XM_011540880.1:c.1164G>A | XP_011539182.1:p.Arg388= | |
| XM_011540881.1:c.1002G>A | XP_011539183.1:p.Arg334= | |
| XM_011540882.1:c.507G>A | XP_011539184.1:p.Arg169= | |
| XR_947187.1:n.841-173C>T | ||
| XM_005270575.4:c.1209G>A | XP_005270632.1:p.Arg403= | |
| XM_005270576.4:c.384G>A | XP_005270633.1:p.Arg128= | |
| XM_011540879.3:c.1164G>A | XP_011539181.1:p.Arg388= | |
| XM_011540882.3:c.507G>A | XP_011539184.1:p.Arg169= | |
| XM_017000523.2:c.1209G>A | XP_016856012.1:p.Arg403= | |
| XM_017000524.2:c.507G>A | XP_016856013.1:p.Arg169= | |
| XM_017000525.2:c.507G>A | XP_016856014.1:p.Arg169= | |
| XM_017000526.2:c.507G>A | XP_016856015.1:p.Arg169= | |
| XM_017000527.2:c.507G>A | XP_016856016.1:p.Arg169= | |
| XM_017000528.2:c.384G>A | XP_016856017.1:p.Arg128= | |
| XR_001737972.1:n.324-173C>T | ||
| NM_024852.4:c.1209G>A MANE Select | NP_079128.2:p.Arg403= | |
| NM_177422.3:c.507G>A | NP_803171.1:p.Arg169= |