Linked Data
ClinVar Variation Id:
1984177
ClinVar RCV Id:
RCV002775366
dbSNP Id:
rs140176741
ExAC:
3:123038648 G / A
gnomAD v2:
3-123038648-G-A
gnomAD v3:
3-123319801-G-A
gnomAD v4:
3-123319801-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.123319801G>A , CM000665.2:g.123319801G>A | GRCh38 |
| NC_000003.11:g.123038648G>A , CM000665.1:g.123038648G>A | GRCh37 |
| NC_000003.10:g.124521338G>A | NCBI36 |
| NG_033882.1:g.133745C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466617.6:c.806C>T | ENSP00000420082.2:p.Ala269Val | |
| ENST00000470367.2:c.1094C>T | ENSP00000514541.1:p.Ala365Val | |
| ENST00000483566.2:c.806C>T | ENSP00000420252.2:p.Ala269Val | |
| ENST00000699714.1:c.806C>T | ENSP00000514539.1:p.Ala269Val | |
| ENST00000699715.1:c.806C>T | ENSP00000514540.1:p.Ala269Val | |
| ENST00000699716.1:c.806C>T | ENSP00000514542.1:p.Ala269Val | |
| ENST00000699718.1:c.2129C>T | ENSP00000514543.1:p.Ala710Val | |
| ENST00000699719.1:n.388C>T | ||
| ENST00000462833.6:c.2129C>T MANE Select | ENSP00000419361.1:p.Ala710Val | |
| ENST00000309879.9:c.1079C>T | ENSP00000308685.5:p.Ala360Val | |
| ENST00000462833.5:c.2129C>T | ENSP00000419361.1:p.Ala710Val | |
| ENST00000466617.5:c.806C>T | ENSP00000420082.1:p.Ala269Val | |
| ENST00000491190.5:c.1028C>T | ENSP00000418537.1:p.Ala343Val | |
| NM_001199642.1:c.1079C>T | NP_001186571.1:p.Ala360Val | |
| NM_183357.2:c.2129C>T | NP_899200.1:p.Ala710Val | |
| XM_005247077.2:c.2129C>T | XP_005247134.1:p.Ala710Val | |
| XM_005247078.1:c.1079C>T | XP_005247135.1:p.Ala360Val | |
| XM_006713483.1:c.1028C>T | XP_006713546.1:p.Ala343Val | |
| XM_006713484.1:c.806C>T | XP_006713547.1:p.Ala269Val | |
| XM_011512358.1:c.2129C>T | XP_011510660.1:p.Ala710Val | |
| XM_011512359.1:c.1130C>T | XP_011510661.1:p.Ala377Val | |
| XM_011512360.1:c.1040C>T | XP_011510662.1:p.Ala347Val | |
| XM_011512361.1:c.806C>T | XP_011510663.1:p.Ala269Val | |
| XM_005247077.4:c.2129C>T | XP_005247134.1:p.Ala710Val | |
| XM_011512359.2:c.1130C>T | XP_011510661.1:p.Ala377Val | |
| XM_011512360.3:c.1040C>T | XP_011510662.1:p.Ala347Val | |
| XM_017005638.1:c.1031C>T | XP_016861127.1:p.Ala344Val | |
| XM_017005639.1:c.1031C>T | XP_016861128.1:p.Ala344Val | |
| NM_001378259.1:c.2129C>T | NP_001365188.1:p.Ala710Val | |
| NM_183357.3:c.2129C>T MANE Select | NP_899200.1:p.Ala710Val |