Identifiers and link-outs to other resources
ClinVar Variation Id:
307723
ClinVar RCV Id:
RCV000339902
dbSNP Id:
rs890
gnomAD:
12:13715308 A / C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.13562374A>C , CM000674.2:g.13562374A>C | GRCh38 |
| NC_000012.11:g.13715308A>C , CM000674.1:g.13715308A>C | GRCh37 |
| NC_000012.10:g.13606575A>C | NCBI36 |
| NG_031854.1:g.422715T>G | |
| NG_031854.2:g.424639T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NM_000834.3:c.*409T>G VV | NP_000825.2:p.= | |
| XM_005253351.2:c.*409T>G | XP_005253408.1:p.= | |
| XM_011520628.1:c.*409T>G | XP_011518930.1:p.= | |
| XM_011520629.1:c.*409T>G | XP_011518931.1:p.= | |
| XM_011520630.1:c.*409T>G | XP_011518932.1:p.= | |
| NM_000834.4:c.*409T>G VV | NP_000825.2:p.= | |
| XM_005253351.3:c.*409T>G | XP_005253408.1:p.= | |
| XM_011520628.2:c.*409T>G | XP_011518930.1:p.= | |
| XM_011520629.2:c.*409T>G | XP_011518931.1:p.= | |
| XM_017019219.2:c.*409T>G | XP_016874708.1:p.= | |
| NM_000834.5:c.*409T>G VV MANE Preferred | NP_000825.2:p.= | |
| ENST00000609686.3:c.*409T>G | ENSP00000477455.1:p.= |