Linked Data
ClinVar Variation Id:
437079
dbSNP Id:
rs142938748
ExAC:
14:89338702 A / G
gnomAD v2:
14-89338702-A-G
gnomAD v3:
14-88872358-A-G
gnomAD v4:
14-88872358-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.88872358A>G , CM000676.2:g.88872358A>G | GRCh38 |
| NC_000014.8:g.89338702A>G , CM000676.1:g.89338702A>G | GRCh37 |
| NC_000014.7:g.88408455A>G | NCBI36 |
| NG_008126.1:g.52725A>G | |
| NG_008126.2:g.53206A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000380656.7:c.1253A>G MANE Select | ENSP00000370031.2:p.Gln418Arg | |
| ENST00000557580.3:c.618A>G | ENSP00000451955.2:n.618A>G | |
| ENST00000338104.10:c.1301A>G | ENSP00000337653.6:p.Gln434Arg | |
| ENST00000345383.9:c.1253A>G | ENSP00000339486.6:p.Gln418Arg | |
| ENST00000346301.8:c.1133A>G | ENSP00000298324.6:p.Gln378Arg | |
| ENST00000354441.10:c.458A>G | ENSP00000346427.6:p.Gln153Arg | |
| ENST00000358622.9:c.659A>G | ENSP00000351439.5:p.Gln220Arg | |
| ENST00000380656.6:c.1253A>G | ENSP00000370031.2:p.Gln418Arg | |
| ENST00000536576.5:c.1133A>G | ENSP00000445067.2:p.Gln378Arg | |
| ENST00000554686.5:c.1102A>G | ||
| ENST00000555057.5:c.*660A>G | ENSP00000450951.1:n.*660A>G | |
| ENST00000557580.2:c.618A>G | ||
| ENST00000614125.4:c.1301A>G | ENSP00000482306.1:p.Gln434Arg | |
| ENST00000622513.4:c.1223A>G | ENSP00000482721.1:p.Gln408Arg | |
| NM_001288781.1:c.1301A>G | NP_001275710.1:p.Gln434Arg | |
| NM_001288782.1:c.659A>G | NP_001275711.1:p.Gln220Arg | |
| NM_001288783.1:c.536A>G | NP_001275712.1:p.Gln179Arg | |
| NM_144596.3:c.1253A>G | NP_653197.2:p.Gln418Arg | |
| NM_198309.3:c.1223A>G | NP_938051.1:p.Gln408Arg | |
| NM_198310.3:c.1133A>G | NP_938052.1:p.Gln378Arg | |
| XM_006720035.1:c.1223A>G | XP_006720098.1:p.Gln408Arg | |
| XM_006720037.2:c.1133A>G | XP_006720100.1:p.Gln378Arg | |
| XM_011536432.1:c.1301A>G | XP_011534734.1:p.Gln434Arg | |
| XM_011536433.1:c.1301A>G | XP_011534735.1:p.Gln434Arg | |
| XM_011536434.1:c.1211A>G | XP_011534736.1:p.Gln404Arg | |
| XM_011536435.1:c.536A>G | XP_011534737.1:p.Gln179Arg | |
| NM_001366535.1:c.1223A>G | NP_001353464.1:p.Gln408Arg | |
| NM_001366536.1:c.1133A>G | NP_001353465.1:p.Gln378Arg | |
| NR_159362.1:n.1340A>G | ||
| XM_011536433.2:c.1301A>G | XP_011534735.1:p.Gln434Arg | |
| XM_011536434.2:c.1211A>G | XP_011534736.1:p.Gln404Arg | |
| XM_024449477.1:c.536A>G | XP_024305245.1:p.Gln179Arg | |
| NM_001366535.2:c.1223A>G | NP_001353464.1:p.Gln408Arg | |
| NM_001366536.2:c.1133A>G | NP_001353465.1:p.Gln378Arg | |
| NR_159362.2:n.1340A>G | ||
| NM_144596.4:c.1253A>G MANE Select | NP_653197.2:p.Gln418Arg |