Linked Data
ClinVar Variation Id:
730337
dbSNP Id:
rs915071476
gnomAD v2:
8-133584674-A-G
gnomAD v3:
8-132572426-A-G
gnomAD v4:
8-132572426-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.132572426A>G , CM000670.2:g.132572426A>G | GRCh38 |
| NC_000008.10:g.133584674A>G , CM000670.1:g.133584674A>G | GRCh37 |
| NC_000008.9:g.133653856A>G | NCBI36 |
| NG_033068.1:g.108190T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000620350.5:c.1281T>C MANE Select | ENSP00000484634.1:p.Asp427= | |
| ENST00000250173.5:c.*145T>C | ENSP00000250173.2:n.*145T>C | |
| ENST00000518642.5:c.*145T>C | ENSP00000428610.1:n.*145T>C | |
| ENST00000519595.5:c.1281T>C | ENSP00000429791.1:p.Asp427= | |
| ENST00000522597.1:n.550T>C | ||
| ENST00000522789.5:c.501T>C | ENSP00000428015.1:p.Asp167= | |
| ENST00000618342.1:c.1281T>C | ENSP00000484802.1:p.Asp427= | |
| ENST00000620350.4:c.1281T>C | ENSP00000484634.1:p.Asp427= | |
| NM_012472.4:c.1281T>C | NP_036604.2:p.Asp427= | |
| NR_073525.1:n.1505T>C | ||
| XM_006716538.2:c.1299T>C | XP_006716601.2:p.Asp433= | |
| XM_011516950.1:c.1239T>C | XP_011515252.1:p.Asp413= | |
| XM_011516952.1:c.1035T>C | XP_011515254.1:p.Asp345= | |
| XM_011516953.1:c.921T>C | XP_011515255.1:p.Asp307= | |
| XM_011516954.1:c.921T>C | XP_011515256.1:p.Asp307= | |
| XR_428377.2:n.1533T>C | ||
| NM_001321961.1:c.1221T>C | NP_001308890.1:p.Asp407= | |
| NM_001321962.1:c.1035T>C | NP_001308891.1:p.Asp345= | |
| NM_001321963.1:c.921T>C | NP_001308892.1:p.Asp307= | |
| NM_001321964.1:c.921T>C | NP_001308893.1:p.Asp307= | |
| NM_001321965.1:c.921T>C | NP_001308894.1:p.Asp307= | |
| NM_001321966.1:c.861T>C | NP_001308895.1:p.Asp287= | |
| NM_012472.5:c.1281T>C | NP_036604.2:p.Asp427= | |
| NR_073525.2:n.1505T>C | ||
| NR_135905.1:n.1494T>C | ||
| NR_135906.1:n.935T>C | ||
| NR_135907.1:n.1181T>C | ||
| NR_135908.1:n.875T>C | ||
| NR_135909.1:n.1299T>C | ||
| NR_135910.1:n.1606T>C | ||
| NR_135911.1:n.1685T>C | ||
| NR_135912.1:n.2244T>C | ||
| NR_135913.1:n.1931T>C | ||
| XM_006716538.3:c.1299T>C | XP_006716601.2:p.Asp433= | |
| XM_011516950.2:c.1239T>C | XP_011515252.1:p.Asp413= | |
| XM_017013296.1:c.1179T>C | XP_016868785.1:p.Asp393= | |
| XM_017013297.1:c.921T>C | XP_016868786.1:p.Asp307= | |
| XM_017013298.1:c.921T>C | XP_016868787.1:p.Asp307= | |
| NM_012472.6:c.1281T>C MANE Select | NP_036604.2:p.Asp427= | |
| NM_001321961.2:c.1221T>C | NP_001308890.1:p.Asp407= | |
| NM_001321962.2:c.1035T>C | NP_001308891.1:p.Asp345= | |
| NM_001321963.2:c.921T>C | NP_001308892.1:p.Asp307= | |
| NM_001321964.2:c.921T>C | NP_001308893.1:p.Asp307= | |
| NM_001321965.2:c.921T>C | NP_001308894.1:p.Asp307= | |
| NM_001321966.2:c.861T>C | NP_001308895.1:p.Asp287= | |
| NR_073525.3:n.1433T>C | ||
| NR_135905.2:n.1422T>C | ||
| NR_135906.2:n.863T>C | ||
| NR_135907.2:n.1109T>C | ||
| NR_135908.2:n.803T>C | ||
| NR_135909.2:n.1319T>C | ||
| NR_135910.2:n.1669T>C | ||
| NR_135911.2:n.1789T>C | ||
| NR_135912.2:n.2348T>C | ||
| NR_135913.2:n.2035T>C |