Linked Data
ClinVar Variation Id:
1564298
ClinVar RCV Id:
RCV002212519
dbSNP Id:
rs769180254
ExAC:
9:138667273 G / A
gnomAD v2:
9-138667273-G-A
gnomAD v3:
9-135775427-G-A
gnomAD v4:
9-135775427-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.135775427G>A , CM000671.2:g.135775427G>A | GRCh38 |
| NC_000009.11:g.138667273G>A , CM000671.1:g.138667273G>A | GRCh37 |
| NC_000009.10:g.137807094G>A | NCBI36 |
| NG_033070.1:g.78243G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371757.7:c.2349+12G>A MANE Select | ENSP00000360822.2:n.2349+12G>A | |
| ENST00000674572.1:c.2190+12G>A | ENSP00000501742.1:n.2190+12G>A | |
| ENST00000675090.1:c.2097+12G>A | ENSP00000501833.1:n.2097+12G>A | |
| ENST00000675399.1:c.2097+12G>A | ENSP00000501932.1:n.2097+12G>A | |
| ENST00000676421.1:c.2106+12G>A | ENSP00000502322.1:n.2106+12G>A | |
| ENST00000263604.5:c.2250+12G>A | ENSP00000263604.4:n.2250+12G>A | |
| ENST00000371757.6:c.2349+12G>A | ENSP00000360822.2:n.2349+12G>A | |
| ENST00000460750.5:c.*1959+12G>A | ENSP00000418777.1:n.*1959+12G>A | |
| ENST00000486577.6:c.2232+12G>A | ENSP00000417578.3:n.2232+12G>A | |
| ENST00000487664.5:c.2349+12G>A | ENSP00000417851.2:n.2349+12G>A | |
| ENST00000488444.6:c.2292+12G>A | ENSP00000419007.3:n.2292+12G>A | |
| ENST00000490355.6:c.2286+12G>A | ENSP00000418003.3:n.2286+12G>A | |
| ENST00000490363.3:n.2168+12G>A | ||
| ENST00000491806.6:c.2292+12G>A | ENSP00000419086.3:n.2292+12G>A | |
| ENST00000628528.2:c.2214+12G>A | ENSP00000486374.1:n.2214+12G>A | |
| ENST00000630792.2:c.2184+12G>A | ENSP00000486486.1:n.2184+12G>A | |
| ENST00000631073.2:c.2292+12G>A | ENSP00000486130.1:n.2292+12G>A | |
| ENST00000631193.1:c.198+12G>A | ENSP00000486830.1:n.198+12G>A | |
| NM_001272003.1:c.2214+12G>A | NP_001258932.1:n.2214+12G>A | |
| NM_020822.2:c.2349+12G>A | NP_065873.2:n.2349+12G>A | |
| XM_011518877.1:c.2484+12G>A | XP_011517179.1:n.2484+12G>A | |
| XM_011518878.1:c.2493+12G>A | XP_011517180.1:n.2493+12G>A | |
| XM_011518879.1:c.2484+12G>A | XP_011517181.1:n.2484+12G>A | |
| XM_011518880.1:c.2250+12G>A | XP_011517182.1:n.2250+12G>A | |
| XM_011518881.1:c.1839+12G>A | XP_011517183.1:n.1839+12G>A | |
| XM_011518877.3:c.2484+12G>A | XP_011517179.1:n.2484+12G>A | |
| XM_011518878.3:c.2493+12G>A | XP_011517180.1:n.2493+12G>A | |
| XM_011518879.3:c.2484+12G>A | XP_011517181.1:n.2484+12G>A | |
| XM_011518881.3:c.1839+12G>A | XP_011517183.1:n.1839+12G>A | |
| XM_017014931.1:c.2283+12G>A | XP_016870420.1:n.2283+12G>A | |
| XM_017014932.1:c.2106+12G>A | XP_016870421.1:n.2106+12G>A | |
| XM_017014933.1:c.1839+12G>A | XP_016870422.1:n.1839+12G>A | |
| XM_024447617.1:c.1839+12G>A | XP_024303385.1:n.1839+12G>A | |
| XM_024447618.1:c.1839+12G>A | XP_024303386.1:n.1839+12G>A | |
| NM_020822.3:c.2349+12G>A MANE Select | NP_065873.2:n.2349+12G>A | |
| NM_001272003.2:c.2214+12G>A | NP_001258932.1:n.2214+12G>A |