Linked Data
dbSNP Id:
rs568758408
ExAC:
6:32007960 T / C
gnomAD v2:
6-32007960-T-C
gnomAD v3:
6-32040183-T-C
gnomAD v4:
6-32040183-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32040183T>C , CM000668.2:g.32040183T>C | GRCh38 |
| NC_000006.11:g.32007960T>C , CM000668.1:g.32007960T>C | GRCh37 |
| NC_000006.10:g.32115939T>C | NCBI36 |
| NG_007941.2:g.6876T>C | |
| NG_008337.2:g.74192A>G | |
| NG_007941.3:g.6879T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644719.2:c.917T>C MANE Select | ENSP00000496625.1:p.Val306Ala | |
| ENST00000418967.6:c.917T>C | ENSP00000408860.2:p.Val306Ala | |
| ENST00000435122.3:c.827T>C | ENSP00000415043.2:p.Val276Ala | |
| ENST00000479074.5:n.975T>C | ||
| ENST00000479730.5:n.1033T>C | ||
| ENST00000483041.5:n.1086T>C | ||
| ENST00000486063.5:n.919-223T>C | ||
| NM_000500.7:c.917T>C | NP_000491.4:p.Val306Ala | |
| NM_001128590.3:c.827T>C | NP_001122062.3:p.Val276Ala | |
| XM_011514314.1:c.512T>C | XP_011512616.1:p.Val171Ala | |
| NM_000500.9:c.917T>C MANE Select | NP_000491.4:p.Val306Ala | |
| NM_001368143.1:c.512T>C | NP_001355072.1:p.Val171Ala | |
| NM_001368144.1:c.512T>C | NP_001355073.1:p.Val171Ala | |
| NM_001128590.4:c.827T>C | NP_001122062.3:p.Val276Ala | |
| NM_001368143.2:c.512T>C | NP_001355072.1:p.Val171Ala | |
| NM_001368144.2:c.512T>C | NP_001355073.1:p.Val171Ala |