Linked Data
dbSNP Id:
rs775229348
ExAC:
17:18052776 A / G
gnomAD v2:
17-18052776-A-G
gnomAD v4:
17-18149462-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.18149462A>G , CM000679.2:g.18149462A>G | GRCh38 |
| NC_000017.10:g.18052776A>G , CM000679.1:g.18052776A>G | GRCh37 |
| NC_000017.9:g.17993501A>G | NCBI36 |
| NG_011634.1:g.45757A>G | |
| NG_011634.2:g.45757A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647165.2:c.7118-24A>G MANE Select | ENSP00000495481.1:n.7118-24A>G | |
| ENST00000205890.9:c.7118-24A>G | ENSP00000205890.5:n.7118-24A>G | |
| ENST00000578999.1:n.715A>G | ||
| ENST00000615845.4:c.7118-24A>G | ENSP00000481642.1:n.7118-24A>G | |
| NM_016239.3:c.7118-24A>G | NP_057323.3:n.7118-24A>G | |
| XM_011523917.1:c.6793-24A>G | XP_011522219.1:n.6793-24A>G | |
| XM_011523921.1:c.7112-24A>G | XP_011522223.1:n.7112-24A>G | |
| XR_934037.1:n.7452-24A>G | ||
| XR_934038.1:n.7404-24A>G | ||
| XR_934293.1:n.435-1856T>C | ||
| XR_934295.1:n.254-1856T>C | ||
| XM_017024714.2:c.7058-24A>G | XP_016880203.1:n.7058-24A>G | |
| XM_017024715.2:c.7121-24A>G | XP_016880204.1:n.7121-24A>G | |
| XR_934293.2:n.378-1856T>C | ||
| NM_016239.4:c.7118-24A>G MANE Select | NP_057323.3:n.7118-24A>G |