Linked Data
dbSNP Id:
rs754216989
ExAC:
2:88875015 A / C
gnomAD v2:
2-88875015-A-C
gnomAD v4:
2-88575497-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.88575497A>C , CM000664.2:g.88575497A>C | GRCh38 |
| NC_000002.11:g.88875015A>C , CM000664.1:g.88875015A>C | GRCh37 |
| NC_000002.10:g.88656130A>C | NCBI36 |
| NG_016424.1:g.57080T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000478003.2:n.1865-51T>G | ||
| ENST00000682276.1:n.1482-51T>G | ||
| ENST00000682892.1:c.1584-51T>G | ENSP00000507214.1:n.1584-51T>G | |
| ENST00000682952.1:n.1676-51T>G | ||
| ENST00000684455.1:c.1250-51T>G | ||
| ENST00000684642.1:c.1434-51T>G | ENSP00000507355.1:n.1434-51T>G | |
| ENST00000684740.1:n.2215-51T>G | ||
| ENST00000303236.9:c.2037-51T>G MANE Select | ENSP00000307235.3:n.2037-51T>G | |
| ENST00000652099.1:c.2231-51T>G | ||
| ENST00000652736.1:n.1913-51T>G | ||
| ENST00000303236.7:c.2037-51T>G | ENSP00000307235.3:n.2037-51T>G | |
| ENST00000415570.1:c.1674-51T>G | ENSP00000412076.1:n.1674-51T>G | |
| ENST00000419748.5:c.1584-51T>G | ENSP00000408325.1:n.1584-51T>G | |
| ENST00000478003.1:n.603-51T>G | ||
| NM_001313915.1:c.1584-51T>G | NP_001300844.1:n.1584-51T>G | |
| NM_004836.5:c.2037-51T>G | NP_004827.4:n.2037-51T>G | |
| NM_004836.6:c.2037-51T>G | NP_004827.4:n.2037-51T>G | |
| NR_110236.1:n.1634A>C | ||
| XM_005264649.3:c.1353-51T>G | XP_005264706.1:n.1353-51T>G | |
| XR_939749.1:n.2316-51T>G | ||
| XM_017005376.2:c.1353-51T>G | XP_016860865.1:n.1353-51T>G | |
| NM_004836.7:c.2037-51T>G MANE Select | NP_004827.4:n.2037-51T>G | |
| NM_001313915.2:c.1584-51T>G | NP_001300844.1:n.1584-51T>G |