Linked Data
dbSNP Id:
rs557731828
ExAC:
11:6340910 A / G
gnomAD v2:
11-6340910-A-G
gnomAD v3:
11-6319680-A-G
gnomAD v4:
11-6319680-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6319680A>G , CM000673.2:g.6319680A>G | GRCh38 |
| NC_000011.9:g.6340910A>G , CM000673.1:g.6340910A>G | GRCh37 |
| NC_000011.8:g.6297486A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303927.4:c.385-116T>C MANE Select | ENSP00000307292.3:n.385-116T>C | |
| ENST00000303927.3:c.385-116T>C | ENSP00000307292.3:n.385-116T>C | |
| ENST00000524852.1:n.64-9T>C | ||
| ENST00000530979.1:c.457T>C | ENSP00000432047.1:p.Ser153Pro | |
| ENST00000532354.1:n.383T>C | ||
| NM_145040.2:c.385-116T>C | NP_659477.2:n.385-116T>C | |
| XR_242848.3:n.119A>G | ||
| XR_242849.3:n.119A>G | ||
| XR_428874.2:n.119A>G | ||
| XR_930992.1:n.119A>G | ||
| XR_930994.1:n.119A>G | ||
| XR_930995.1:n.119A>G | ||
| XR_930996.1:n.119A>G | ||
| XR_930997.1:n.720+1460A>G | ||
| XR_930998.1:n.119A>G | ||
| XR_930999.1:n.119A>G | ||
| XR_001748105.2:n.138A>G | ||
| XR_001748106.1:n.291A>G | ||
| XR_001748108.2:n.138A>G | ||
| XR_001748109.2:n.147A>G | ||
| XR_242848.4:n.540A>G | ||
| XR_930992.3:n.138A>G | ||
| XR_930994.3:n.138A>G | ||
| XR_930995.3:n.138A>G | ||
| XR_930998.3:n.138A>G | ||
| NM_145040.3:c.385-116T>C MANE Select | NP_659477.2:n.385-116T>C |