Linked Data
dbSNP Id:
rs10505725
gnomAD v2:
12-2056363-C-T
gnomAD v3:
12-1947197-C-T
gnomAD v4:
12-1947197-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.1947197C>T , CM000674.2:g.1947197C>T | GRCh38 |
| NC_000012.11:g.2056363C>T , CM000674.1:g.2056363C>T | GRCh37 |
| NC_000012.10:g.1926624C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000280665.11:c.1774-911G>A MANE Select | ENSP00000280665.6:n.1774-911G>A | |
| ENST00000280665.10:c.1774-911G>A | ENSP00000280665.6:n.1774-911G>A | |
| ENST00000543381.5:c.*1540-911G>A | ENSP00000445011.1:n.*1540-911G>A | |
| NM_152640.3:c.1774-911G>A | NP_689853.3:n.1774-911G>A | |
| XM_011520927.1:c.1468-911G>A | XP_011519229.1:n.1468-911G>A | |
| XM_011520928.1:c.1396-911G>A | XP_011519230.1:n.1396-911G>A | |
| NM_152640.4:c.1774-911G>A | NP_689853.3:n.1774-911G>A | |
| NR_135060.1:n.2004-911G>A | ||
| XM_011520927.3:c.1468-911G>A | XP_011519229.1:n.1468-911G>A | |
| NM_152640.5:c.1774-911G>A MANE Select | NP_689853.3:n.1774-911G>A | |
| NR_135060.2:n.1926-911G>A |