Linked Data
ClinVar Variation Id:
307755
ClinVar RCV Id:
RCV000384107
dbSNP Id:
rs748524822
gnomAD v2:
12-14019151-C-A
gnomAD v4:
12-13866217-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13866217C>A , CM000674.2:g.13866217C>A | GRCh38 |
| NC_000012.11:g.14019151C>A , CM000674.1:g.14019151C>A | GRCh37 |
| NC_000012.10:g.13910418C>A | NCBI36 |
| NG_031854.1:g.118872G>T | |
| NG_031854.2:g.120796G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.-9G>T MANE Select | ENSP00000477455.1:n.-9G>T | |
| ENST00000630791.2:c.-9G>T | ENSP00000486677.2:n.-9G>T | |
| ENST00000609686.3:c.-9G>T | ENSP00000477455.1:n.-9G>T | |
| ENST00000627535.2:c.-9G>T | ENSP00000486411.1:n.-9G>T | |
| ENST00000630791.1:c.-9G>T | ENSP00000486677.1:n.-9G>T | |
| NM_000834.3:c.-9G>T | NP_000825.2:n.-9G>T | |
| XM_011520628.1:c.-9G>T | XP_011518930.1:n.-9G>T | |
| XM_011520629.1:c.-9G>T | XP_011518931.1:n.-9G>T | |
| XM_011520630.1:c.-9G>T | XP_011518932.1:n.-9G>T | |
| NM_000834.4:c.-9G>T | NP_000825.2:n.-9G>T | |
| XM_011520628.2:c.-9G>T | XP_011518930.1:n.-9G>T | |
| XM_011520629.2:c.-9G>T | XP_011518931.1:n.-9G>T | |
| XM_017019219.2:c.-9G>T | XP_016874708.1:n.-9G>T | |
| NM_000834.5:c.-9G>T MANE Select | NP_000825.2:n.-9G>T |