Linked Data
ClinVar Variation Id:
501513
dbSNP Id:
rs753954585
ExAC:
1:7723485 G / A
gnomAD v2:
1-7723485-G-A
gnomAD v3:
1-7663425-G-A
gnomAD v4:
1-7663425-G-A
COSMIC:
COSM1686941
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7663425G>A , CM000663.2:g.7663425G>A | GRCh38 |
| NC_000001.10:g.7723485G>A , CM000663.1:g.7723485G>A | GRCh37 |
| NC_000001.9:g.7646072G>A | NCBI36 |
| NG_053148.1:g.883102G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000476864.2:c.878G>A | ENSP00000452319.2:p.Arg293Gln | |
| ENST00000700414.1:c.*729G>A | ENSP00000514978.1:n.*729G>A | |
| ENST00000700415.1:c.788G>A | ENSP00000514979.1:p.Arg263Gln | |
| ENST00000700417.1:c.806G>A | ENSP00000514981.1:p.Arg269Gln | |
| ENST00000700444.1:c.*647G>A | ENSP00000514992.1:n.*647G>A | |
| ENST00000303635.12:c.878G>A MANE Select | ENSP00000306522.6:p.Arg293Gln | |
| ENST00000303635.11:c.878G>A | ENSP00000306522.6:p.Arg293Gln | |
| NM_015215.3:c.878G>A | NP_056030.1:p.Arg293Gln | |
| XM_011541083.1:c.878G>A | XP_011539385.1:p.Arg293Gln | |
| XM_011541084.1:c.878G>A | XP_011539386.1:p.Arg293Gln | |
| XM_011541085.1:c.866G>A | XP_011539387.1:p.Arg289Gln | |
| XM_011541086.1:c.878G>A | XP_011539388.1:p.Arg293Gln | |
| XM_011541087.1:c.806G>A | XP_011539389.1:p.Arg269Gln | |
| XM_011541088.1:c.788G>A | XP_011539390.1:p.Arg263Gln | |
| XM_011541089.1:c.878G>A | XP_011539391.1:p.Arg293Gln | |
| XM_011541090.1:c.878G>A | XP_011539392.1:p.Arg293Gln | |
| XM_011541091.1:c.878G>A | XP_011539393.1:p.Arg293Gln | |
| XM_011541092.1:c.878G>A | XP_011539394.1:p.Arg293Gln | |
| NM_001349608.1:c.788G>A | NP_001336537.1:p.Arg263Gln | |
| NM_001349609.1:c.878G>A | NP_001336538.1:p.Arg293Gln | |
| NM_001349610.1:c.878G>A | NP_001336539.1:p.Arg293Gln | |
| NM_001349612.1:c.788G>A | NP_001336541.1:p.Arg263Gln | |
| XM_011541083.2:c.878G>A | XP_011539385.1:p.Arg293Gln | |
| XM_011541084.2:c.878G>A | XP_011539386.1:p.Arg293Gln | |
| XM_011541086.3:c.878G>A | XP_011539388.1:p.Arg293Gln | |
| XM_011541087.2:c.806G>A | XP_011539389.1:p.Arg269Gln | |
| XM_011541088.2:c.788G>A | XP_011539390.1:p.Arg263Gln | |
| XM_011541090.3:c.878G>A | XP_011539392.1:p.Arg293Gln | |
| XM_011541091.2:c.878G>A | XP_011539393.1:p.Arg293Gln | |
| XM_011541092.3:c.878G>A | XP_011539394.1:p.Arg293Gln | |
| XM_017000774.2:c.878G>A | XP_016856263.1:p.Arg293Gln | |
| XM_017000777.1:c.878G>A | XP_016856266.1:p.Arg293Gln | |
| XM_017000778.1:c.878G>A | XP_016856267.1:p.Arg293Gln | |
| NM_015215.4:c.878G>A MANE Select | NP_056030.1:p.Arg293Gln | |
| NM_001349608.2:c.788G>A | NP_001336537.1:p.Arg263Gln | |
| NM_001349609.2:c.878G>A | NP_001336538.1:p.Arg293Gln | |
| NM_001349610.2:c.878G>A | NP_001336539.1:p.Arg293Gln | |
| NM_001349612.2:c.788G>A | NP_001336541.1:p.Arg263Gln |