Linked Data
ClinVar Variation Id:
450957
dbSNP Id:
rs1333549995
gnomAD v3:
9-135775310-G-C
gnomAD v4:
9-135775310-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775310G>C , CM000671.2:g.135775310G>C | GRCh38 |
| NC_000009.11:g.138667156G>C , CM000671.1:g.138667156G>C | GRCh37 |
| NC_000009.10:g.137806977G>C | NCBI36 |
| NG_033070.1:g.78126G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2244G>C MANE Select | ENSP00000360822.2:p.Glu748Asp | |
| ENST00000674572.1:c.2085G>C | ENSP00000501742.1:p.Glu695Asp | |
| ENST00000675090.1:c.1992G>C | ENSP00000501833.1:p.Glu664Asp | |
| ENST00000675399.1:c.1992G>C | ENSP00000501932.1:p.Glu664Asp | |
| ENST00000676421.1:c.2001G>C | ENSP00000502322.1:p.Glu667Asp | |
| ENST00000263604.5:c.2145G>C | ENSP00000263604.4:p.Glu715Asp | |
| ENST00000371757.6:c.2244G>C | ENSP00000360822.2:p.Glu748Asp | |
| ENST00000460750.5:c.*1854G>C | ENSP00000418777.1:n.*1854G>C | |
| ENST00000486577.6:c.2127G>C | ENSP00000417578.3:p.Glu709Asp | |
| ENST00000487664.5:c.2244G>C | ENSP00000417851.2:p.Glu748Asp | |
| ENST00000488444.6:c.2187G>C | ENSP00000419007.3:p.Glu729Asp | |
| ENST00000490355.6:c.2181G>C | ENSP00000418003.3:p.Glu727Asp | |
| ENST00000490363.3:n.2063G>C | ||
| ENST00000491806.6:c.2187G>C | ENSP00000419086.3:p.Glu729Asp | |
| ENST00000628528.2:c.2109G>C | ENSP00000486374.1:p.Glu703Asp | |
| ENST00000630792.2:c.2079G>C | ENSP00000486486.1:p.Glu693Asp | |
| ENST00000631073.2:c.2187G>C | ENSP00000486130.1:p.Glu729Asp | |
| ENST00000631193.1:c.93G>C | ENSP00000486830.1:p.Glu31Asp | |
| NM_001272003.1:c.2109G>C | NP_001258932.1:p.Glu703Asp | |
| NM_020822.2:c.2244G>C | NP_065873.2:p.Glu748Asp | |
| XM_011518877.1:c.2379G>C | XP_011517179.1:p.Glu793Asp | |
| XM_011518878.1:c.2388G>C | XP_011517180.1:p.Glu796Asp | |
| XM_011518879.1:c.2379G>C | XP_011517181.1:p.Glu793Asp | |
| XM_011518880.1:c.2145G>C | XP_011517182.1:p.Glu715Asp | |
| XM_011518881.1:c.1734G>C | XP_011517183.1:p.Glu578Asp | |
| XM_011518877.3:c.2379G>C | XP_011517179.1:p.Glu793Asp | |
| XM_011518878.3:c.2388G>C | XP_011517180.1:p.Glu796Asp | |
| XM_011518879.3:c.2379G>C | XP_011517181.1:p.Glu793Asp | |
| XM_011518881.3:c.1734G>C | XP_011517183.1:p.Glu578Asp | |
| XM_017014931.1:c.2178G>C | XP_016870420.1:p.Glu726Asp | |
| XM_017014932.1:c.2001G>C | XP_016870421.1:p.Glu667Asp | |
| XM_017014933.1:c.1734G>C | XP_016870422.1:p.Glu578Asp | |
| XM_024447617.1:c.1734G>C | XP_024303385.1:p.Glu578Asp | |
| XM_024447618.1:c.1734G>C | XP_024303386.1:p.Glu578Asp | |
| NM_020822.3:c.2244G>C MANE Select | NP_065873.2:p.Glu748Asp | |
| NM_001272003.2:c.2109G>C | NP_001258932.1:p.Glu703Asp |