Linked Data
ClinVar Variation Id:
1232550
ClinVar RCV Id:
RCV001620898
dbSNP Id:
rs11635825
gnomAD v2:
15-50954947-T-C
gnomAD v3:
15-50662750-T-C
gnomAD v4:
15-50662750-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.50662750T>C , CM000677.2:g.50662750T>C | GRCh38 |
| NC_000015.9:g.50954947T>C , CM000677.1:g.50954947T>C | GRCh37 |
| NC_000015.8:g.48742239T>C | NCBI36 |
| NG_021363.1:g.29066A>G | |
| NG_021363.2:g.29066A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000646667.1:c.83+217A>G MANE Select | ENSP00000495860.1:n.83+217A>G | |
| ENST00000676296.1:c.267+217A>G | ENSP00000502268.1:n.267+217A>G | |
| ENST00000313478.11:c.83+217A>G | ENSP00000320239.7:n.83+217A>G | |
| ENST00000560955.5:c.83+217A>G | ENSP00000453277.1:n.83+217A>G | |
| NM_001301212.1:c.83+217A>G | NP_001288141.1:n.83+217A>G | |
| NM_017672.5:c.83+217A>G | NP_060142.3:n.83+217A>G | |
| XM_005254486.2:c.83+217A>G | XP_005254543.1:n.83+217A>G | |
| XM_005254487.2:c.83+217A>G | XP_005254544.1:n.83+217A>G | |
| XM_011521712.1:c.83+217A>G | XP_011520014.1:n.83+217A>G | |
| XR_931853.1:n.365+217A>G | ||
| NR_149152.1:n.365+217A>G | ||
| NR_149153.1:n.365+217A>G | ||
| NR_149154.1:n.365+217A>G | ||
| XM_005254486.4:c.83+217A>G | XP_005254543.1:n.83+217A>G | |
| XM_017022350.1:c.110+217A>G | XP_016877839.1:n.110+217A>G | |
| XM_017022351.1:c.110+217A>G | XP_016877840.1:n.110+217A>G | |
| XM_017022352.1:c.110+217A>G | XP_016877841.1:n.110+217A>G | |
| XM_017022353.2:c.110+217A>G | XP_016877842.1:n.110+217A>G | |
| XM_017022354.1:c.-95+217A>G | XP_016877843.1:n.-95+217A>G | |
| XR_001751325.1:n.125+217A>G | ||
| XR_001751326.2:n.125+217A>G | ||
| XR_001751327.1:n.125+217A>G | ||
| XR_001751328.2:n.125+217A>G | ||
| XR_002957653.1:n.125+217A>G | ||
| XR_002957654.1:n.125+217A>G | ||
| NM_017672.6:c.83+217A>G MANE Select | NP_060142.3:n.83+217A>G | |
| NM_001301212.2:c.83+217A>G | NP_001288141.1:n.83+217A>G | |
| NR_149152.2:n.347+217A>G | ||
| NR_149153.2:n.347+217A>G | ||
| NR_149154.2:n.347+217A>G |