Linked Data
dbSNP Id:
rs567977184
gnomAD v2:
12-14115582-A-C
gnomAD v3:
12-13962648-A-C
gnomAD v4:
12-13962648-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13962648A>C , CM000674.2:g.13962648A>C | GRCh38 |
| NC_000012.11:g.14115582A>C , CM000674.1:g.14115582A>C | GRCh37 |
| NC_000012.10:g.14006849A>C | NCBI36 |
| NG_031854.1:g.22441T>G | |
| NG_031854.2:g.24365T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000609686.4:c.-19+17280T>G MANE Select | ENSP00000477455.1:n.-19+17280T>G | |
| ENST00000630791.2:c.-19+17280T>G | ENSP00000486677.2:n.-19+17280T>G | |
| ENST00000609686.3:c.-19+17280T>G | ENSP00000477455.1:n.-19+17280T>G | |
| ENST00000627535.2:c.-19+17280T>G | ENSP00000486411.1:n.-19+17280T>G | |
| ENST00000630791.1:c.-19+17280T>G | ENSP00000486677.1:n.-19+17280T>G | |
| NM_000834.3:c.-19+17280T>G | NP_000825.2:n.-19+17280T>G | |
| XM_011520628.1:c.-19+17280T>G | XP_011518930.1:n.-19+17280T>G | |
| XM_011520629.1:c.-19+17280T>G | XP_011518931.1:n.-19+17280T>G | |
| XM_011520630.1:c.-19+17280T>G | XP_011518932.1:n.-19+17280T>G | |
| NM_000834.4:c.-19+17280T>G | NP_000825.2:n.-19+17280T>G | |
| XM_011520628.2:c.-19+17280T>G | XP_011518930.1:n.-19+17280T>G | |
| XM_011520629.2:c.-19+17280T>G | XP_011518931.1:n.-19+17280T>G | |
| XM_017019219.2:c.-19+17280T>G | XP_016874708.1:n.-19+17280T>G | |
| NM_000834.5:c.-19+17280T>G MANE Select | NP_000825.2:n.-19+17280T>G |