Linked Data
ClinVar Variation Id:
2679879
ClinVar RCV Id:
RCV003474284
dbSNP Id:
rs1293309607
gnomAD v2:
1-76216176-A-G
gnomAD v4:
1-75750491-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.75750491A>G , CM000663.2:g.75750491A>G | GRCh38 |
| NC_000001.10:g.76216176A>G , CM000663.1:g.76216176A>G | GRCh37 |
| NC_000001.9:g.75988764A>G | NCBI36 |
| NG_007045.2:g.31134A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000370841.9:c.890A>G MANE Select | ENSP00000359878.5:p.Asp297Gly | |
| ENST00000473018.3:n.3014A>G | ||
| ENST00000532207.6:n.1779A>G | ||
| ENST00000541113.6:c.849+932A>G | ENSP00000442324.2:n.849+932A>G | |
| ENST00000679509.1:n.1852A>G | ||
| ENST00000679530.1:c.*658A>G | ENSP00000506454.1:n.*658A>G | |
| ENST00000679615.1:n.2905A>G | ||
| ENST00000679687.1:c.452A>G | ENSP00000506598.1:p.Asp151Gly | |
| ENST00000679704.1:c.*656A>G | ENSP00000505117.1:n.*656A>G | |
| ENST00000679709.1:c.*853A>G | ENSP00000506623.1:n.*853A>G | |
| ENST00000679976.1:c.*474A>G | ENSP00000505565.1:n.*474A>G | |
| ENST00000680166.1:n.4179A>G | ||
| ENST00000680315.1:n.773A>G | ||
| ENST00000680517.1:c.*278A>G | ENSP00000505803.1:n.*278A>G | |
| ENST00000680582.1:n.1852A>G | ||
| ENST00000680613.1:c.*261A>G | ENSP00000506114.1:n.*261A>G | |
| ENST00000680662.1:c.*804A>G | ENSP00000505080.1:n.*804A>G | |
| ENST00000680691.1:c.*553A>G | ENSP00000506487.1:n.*553A>G | |
| ENST00000680694.1:c.*478A>G | ENSP00000505658.1:n.*478A>G | |
| ENST00000680743.1:c.*557A>G | ENSP00000505073.1:n.*557A>G | |
| ENST00000680749.1:c.*175A>G | ENSP00000505122.1:n.*175A>G | |
| ENST00000680798.1:c.*365A>G | ENSP00000505670.1:n.*365A>G | |
| ENST00000680805.1:c.749A>G | ENSP00000505447.1:p.Asp250Gly | |
| ENST00000680844.1:c.*674A>G | ENSP00000506541.1:n.*674A>G | |
| ENST00000680948.1:c.*757A>G | ENSP00000505441.1:n.*757A>G | |
| ENST00000680964.1:c.890A>G | ENSP00000505961.1:p.Asp297Gly | |
| ENST00000681037.1:c.*2374A>G | ENSP00000506025.1:n.*2374A>G | |
| ENST00000681063.1:c.*37A>G | ENSP00000506616.1:n.*37A>G | |
| ENST00000681209.1:c.*545A>G | ENSP00000505877.1:n.*545A>G | |
| ENST00000681278.1:n.1247A>G | ||
| ENST00000681289.1:n.4885A>G | ||
| ENST00000681361.1:c.*557A>G | ENSP00000506679.1:n.*557A>G | |
| ENST00000681430.1:c.890A>G | ENSP00000506301.1:p.Asp297Gly | |
| ENST00000681446.1:c.*472A>G | ENSP00000506244.1:n.*472A>G | |
| ENST00000681450.1:c.*561A>G | ENSP00000505660.1:n.*561A>G | |
| ENST00000681548.1:c.*476A>G | ENSP00000505275.1:n.*476A>G | |
| ENST00000681616.1:c.*549A>G | ENSP00000505111.1:n.*549A>G | |
| ENST00000681621.1:c.*474A>G | ENSP00000505770.1:n.*474A>G | |
| ENST00000681680.1:n.2985A>G | ||
| ENST00000681720.1:c.*345A>G | ENSP00000505438.1:n.*345A>G | |
| ENST00000681730.1:n.1112A>G | ||
| ENST00000681790.1:c.632A>G | ENSP00000505130.1:p.Asp211Gly | |
| ENST00000681837.1:n.1506A>G | ||
| ENST00000681913.1:n.3014A>G | ||
| ENST00000681916.1:c.*658A>G | ENSP00000506477.1:n.*658A>G | |
| ENST00000681930.1:n.3014A>G | ||
| ENST00000370834.9:c.989A>G | ENSP00000359871.5:p.Asp330Gly | |
| ENST00000370841.8:c.890A>G | ENSP00000359878.4:p.Asp297Gly | |
| ENST00000420607.6:c.902A>G | ENSP00000409612.2:p.Asp301Gly | |
| ENST00000481374.1:n.41A>G | ||
| ENST00000525808.5:c.*476A>G | ENSP00000434823.1:n.*476A>G | |
| ENST00000526129.5:c.*674A>G | ENSP00000434092.1:n.*674A>G | |
| ENST00000526196.5:c.*658A>G | ENSP00000431953.1:n.*658A>G | |
| ENST00000528016.1:c.104A>G | ENSP00000434284.1:p.Asp35Gly | |
| ENST00000529059.5:n.799A>G | ||
| ENST00000532207.5:n.620A>G | ||
| ENST00000534334.5:c.*474A>G | ENSP00000435584.1:n.*474A>G | |
| ENST00000541113.5:c.782A>G | ENSP00000442324.1:p.Asp261Gly | |
| NM_000016.5:c.890A>G | NP_000007.1:p.Asp297Gly | |
| NM_001127328.2:c.902A>G | NP_001120800.1:p.Asp301Gly | |
| NM_001286042.1:c.782A>G | NP_001272971.1:p.Asp261Gly | |
| NM_001286043.1:c.989A>G | NP_001272972.1:p.Asp330Gly | |
| NM_001286044.1:c.323A>G | NP_001272973.1:p.Asp108Gly | |
| NM_000016.6:c.890A>G MANE Select | NP_000007.1:p.Asp297Gly | |
| NM_001127328.3:c.902A>G | NP_001120800.1:p.Asp301Gly | |
| NM_001286042.2:c.782A>G | NP_001272971.1:p.Asp261Gly | |
| NM_001286043.2:c.989A>G | NP_001272972.1:p.Asp330Gly | |
| NM_001286044.2:c.323A>G | NP_001272973.1:p.Asp108Gly |