Linked Data
dbSNP Id:
rs2071057
gnomAD v2:
12-6950052-G-A
gnomAD v3:
12-6840888-G-A
gnomAD v4:
12-6840888-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6840888G>A , CM000674.2:g.6840888G>A | GRCh38 |
| NC_000012.11:g.6950052G>A , CM000674.1:g.6950052G>A | GRCh37 |
| NC_000012.10:g.6820313G>A | NCBI36 |
| NG_009100.1:g.5678G>A | |
| NG_033740.1:g.17516G>A | |
| NG_009100.2:g.5678G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000675241.1:c.-176G>A | ENSP00000501677.1:n.-176G>A | |
| ENST00000229264.7:c.-176G>A | ENSP00000229264.3:n.-176G>A | |
| ENST00000540458.5:n.935G>A | ||
| ENST00000541257.5:c.-30-370G>A | ENSP00000442002.1:n.-30-370G>A | |
| ENST00000541978.5:c.-176G>A | ENSP00000439753.2:n.-176G>A | |
| NM_001297571.1:c.-176G>A | NP_001284500.1:n.-176G>A | |
| NM_002075.3:c.-176G>A | NP_002066.1:n.-176G>A |