Linked Data
ClinVar Variation Id:
299260
dbSNP Id:
rs150631501
ExAC:
10:13340195 T / C
gnomAD v2:
10-13340195-T-C
gnomAD v3:
10-13298195-T-C
gnomAD v4:
10-13298195-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.13298195T>C , CM000672.2:g.13298195T>C | GRCh38 |
| NC_000010.10:g.13340195T>C , CM000672.1:g.13340195T>C | GRCh37 |
| NC_000010.9:g.13380201T>C | NCBI36 |
| NG_012862.1:g.6936A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263038.9:c.126A>G MANE Select | ENSP00000263038.4:p.Gln42= | |
| ENST00000263038.8:c.126A>G | ENSP00000263038.4:p.Gln42= | |
| ENST00000396913.6:c.-167+1225A>G | ENSP00000380121.2:n.-167+1225A>G | |
| ENST00000396920.7:c.69A>G | ENSP00000380126.3:p.Gln23= | |
| ENST00000453759.6:c.-175A>G | ENSP00000412525.2:n.-175A>G | |
| ENST00000463730.1:n.181A>G | ||
| ENST00000479604.1:c.126A>G | ENSP00000420117.1:p.Gln42= | |
| NM_001037537.1:c.-167+1225A>G | NP_001032626.1:n.-167+1225A>G | |
| NM_006214.3:c.126A>G | NP_006205.1:p.Gln42= | |
| XM_005252469.2:c.171A>G | XP_005252526.1:p.Gln57= | |
| NM_001323080.1:c.-175A>G | NP_001310009.1:n.-175A>G | |
| NM_001323082.1:c.126A>G | NP_001310011.1:p.Gln42= | |
| NM_001323083.1:c.126A>G | NP_001310012.1:p.Gln42= | |
| NM_001323084.1:c.-167+1225A>G | NP_001310013.1:n.-167+1225A>G | |
| NM_006214.4:c.126A>G MANE Select | NP_006205.1:p.Gln42= | |
| NM_001037537.2:c.-167+1225A>G | NP_001032626.1:n.-167+1225A>G | |
| NM_001323080.2:c.-175A>G | NP_001310009.1:n.-175A>G | |
| NM_001323082.2:c.126A>G | NP_001310011.1:p.Gln42= | |
| NM_001323083.2:c.126A>G | NP_001310012.1:p.Gln42= | |
| NM_001323084.2:c.-167+1225A>G | NP_001310013.1:n.-167+1225A>G |