Linked Data
ClinVar Variation Id:
1593858
ClinVar RCV Id:
RCV002105264
dbSNP Id:
rs1265201296
gnomAD v2:
12-13717274-T-C
gnomAD v3:
12-13564340-T-C
gnomAD v4:
12-13564340-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13564340T>C , CM000674.2:g.13564340T>C | GRCh38 |
| NC_000012.11:g.13717274T>C , CM000674.1:g.13717274T>C | GRCh37 |
| NC_000012.10:g.13608541T>C | NCBI36 |
| NG_031854.1:g.420749A>G | |
| NG_031854.2:g.422673A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000609686.4:c.2898A>G MANE Select | ENSP00000477455.1:p.Val966= | |
| ENST00000637214.1:c.69+44263A>G | ENSP00000489997.1:n.69+44263A>G | |
| ENST00000609686.3:c.2898A>G | ENSP00000477455.1:p.Val966= | |
| ENST00000628166.1:n.1158A>G | ||
| NM_000834.3:c.2898A>G | NP_000825.2:p.Val966= | |
| XM_005253351.2:c.684A>G | XP_005253408.1:p.Val228= | |
| XM_011520628.1:c.2898A>G | XP_011518930.1:p.Val966= | |
| XM_011520629.1:c.2898A>G | XP_011518931.1:p.Val966= | |
| XM_011520630.1:c.2898A>G | XP_011518932.1:p.Val966= | |
| NM_000834.4:c.2898A>G | NP_000825.2:p.Val966= | |
| XM_005253351.3:c.684A>G | XP_005253408.1:p.Val228= | |
| XM_011520628.2:c.2898A>G | XP_011518930.1:p.Val966= | |
| XM_011520629.2:c.2898A>G | XP_011518931.1:p.Val966= | |
| XM_017019219.2:c.2898A>G | XP_016874708.1:p.Val966= | |
| NM_000834.5:c.2898A>G MANE Select | NP_000825.2:p.Val966= |