Linked Data
ClinVar Variation Id:
764793
dbSNP Id:
rs750880441
ExAC:
12:120139561 T / C
gnomAD v2:
12-120139561-T-C
gnomAD v3:
12-119701756-T-C
gnomAD v4:
12-119701756-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119701756T>C , CM000674.2:g.119701756T>C | GRCh38 |
| NC_000012.11:g.120139561T>C , CM000674.1:g.120139561T>C | GRCh37 |
| NC_000012.10:g.118623944T>C | NCBI36 |
| NG_029792.1:g.180535A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000392521.7:c.5414-4A>G MANE Select | ENSP00000376306.2:n.5414-4A>G | |
| ENST00000545913.6:n.7577-4A>G | ||
| ENST00000676693.1:n.2740-4A>G | ||
| ENST00000676833.1:n.4774-4A>G | ||
| ENST00000676849.1:c.4031-4A>G | ENSP00000503214.1:n.4031-4A>G | |
| ENST00000677438.1:c.*4520-4A>G | ENSP00000504095.1:n.*4520-4A>G | |
| ENST00000677738.1:n.2611-4A>G | ||
| ENST00000677742.1:n.724-4A>G | ||
| ENST00000677812.1:c.*4634-4A>G | ENSP00000504400.1:n.*4634-4A>G | |
| ENST00000677849.1:c.*4520-4A>G | ENSP00000503820.1:n.*4520-4A>G | |
| ENST00000677993.1:c.4019-4A>G | ENSP00000503765.1:n.4019-4A>G | |
| ENST00000678087.1:c.3905-4A>G | ENSP00000503863.1:n.3905-4A>G | |
| ENST00000678236.1:n.6874-4A>G | ||
| ENST00000678494.1:c.1227-14722A>G | ENSP00000503854.1:n.1227-14722A>G | |
| ENST00000678652.1:c.4031-4A>G | ENSP00000504849.1:n.4031-4A>G | |
| ENST00000678677.1:c.3818-4A>G | ENSP00000503253.1:n.3818-4A>G | |
| ENST00000679120.1:c.*3421-4A>G | ENSP00000502891.1:n.*3421-4A>G | |
| ENST00000679249.1:c.4031-4A>G | ENSP00000503976.1:n.4031-4A>G | |
| ENST00000679285.1:n.2910-4A>G | ||
| ENST00000261833.11:c.5288-4A>G | ENSP00000261833.7:n.5288-4A>G | |
| ENST00000392520.2:c.4126-4A>G | ||
| ENST00000392521.6:c.5414-4A>G | ENSP00000376306.2:n.5414-4A>G | |
| ENST00000537607.5:n.4141-4A>G | ||
| ENST00000545913.5:n.5285-4A>G | ||
| ENST00000612548.4:c.1442-13692A>G | ENSP00000482318.1:n.1442-13692A>G | |
| NM_001206999.1:c.5414-4A>G | NP_001193928.1:n.5414-4A>G | |
| NM_007174.2:c.5288-4A>G | NP_009105.1:n.5288-4A>G | |
| XM_006719206.2:c.5369-4A>G | XP_006719269.1:n.5369-4A>G | |
| XM_011537783.1:c.5459-4A>G | XP_011536085.1:n.5459-4A>G | |
| XM_011537784.1:c.5459-4A>G | XP_011536086.1:n.5459-4A>G | |
| XM_011537785.1:c.5414-4A>G | XP_011536087.1:n.5414-4A>G | |
| XM_011537786.1:c.5333-4A>G | XP_011536088.1:n.5333-4A>G | |
| XM_011537787.1:c.5243-4A>G | XP_011536089.1:n.5243-4A>G | |
| XM_011537788.1:c.5243-4A>G | XP_011536090.1:n.5243-4A>G | |
| XM_011537789.1:c.4121-4A>G | XP_011536091.1:n.4121-4A>G | |
| XM_011537790.1:c.4121-4A>G | XP_011536092.1:n.4121-4A>G | |
| XM_011537791.1:c.4061-4A>G | XP_011536093.1:n.4061-4A>G | |
| XM_011537792.1:c.3845-4A>G | XP_011536094.1:n.3845-4A>G | |
| XM_011537790.2:c.4121-4A>G | XP_011536092.1:n.4121-4A>G | |
| XM_011537791.2:c.4061-4A>G | XP_011536093.1:n.4061-4A>G | |
| XM_011537792.2:c.3845-4A>G | XP_011536094.1:n.3845-4A>G | |
| XM_017018735.1:c.5414-4A>G | XP_016874224.1:n.5414-4A>G | |
| XM_017018736.1:c.5414-4A>G | XP_016874225.1:n.5414-4A>G | |
| XM_017018737.1:c.5369-4A>G | XP_016874226.1:n.5369-4A>G | |
| XM_017018738.1:c.3935-4A>G | XP_016874227.1:n.3935-4A>G | |
| XM_017018739.1:c.3845-4A>G | XP_016874228.1:n.3845-4A>G | |
| NM_001206999.2:c.5414-4A>G MANE Select | NP_001193928.1:n.5414-4A>G | |
| NM_007174.3:c.5288-4A>G | NP_009105.1:n.5288-4A>G |