Linked Data
ClinVar Variation Id:
430121
dbSNP Id:
rs779170859
ExAC:
1:976577 T / C
gnomAD v2:
1-976577-T-C
gnomAD v3:
1-1041197-T-C
gnomAD v4:
1-1041197-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1041197T>C , CM000663.2:g.1041197T>C | GRCh38 |
| NC_000001.10:g.976577T>C , CM000663.1:g.976577T>C | GRCh37 |
| NC_000001.9:g.966440T>C | NCBI36 |
| NG_016346.1:g.26075T>C , LRG_198:g.26075T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000379370.7:c.752T>C MANE Select | ENSP00000368678.2:p.Val251Ala | |
| ENST00000651234.1:c.437T>C | ENSP00000499046.1:p.Val146Ala | |
| ENST00000652369.1:c.437T>C | ENSP00000498543.1:p.Val146Ala | |
| ENST00000379370.6:c.752T>C | ENSP00000368678.2:p.Val251Ala | |
| ENST00000469403.1:n.699T>C | ||
| ENST00000620552.4:c.338T>C | ENSP00000484607.1:p.Val113Ala | |
| NM_001305275.1:c.752T>C | NP_001292204.1:p.Val251Ala | |
| NM_198576.3:c.752T>C | NP_940978.2:p.Val251Ala | |
| XM_005244749.2:c.752T>C | XP_005244806.1:p.Val251Ala | |
| XM_006710635.2:c.752T>C | XP_006710698.1:p.Val251Ala | |
| XM_011541429.1:c.752T>C | XP_011539731.1:p.Val251Ala | |
| XM_011541430.1:c.512-2042T>C | XP_011539732.1:n.512-2042T>C | |
| XR_946650.1:n.819T>C | ||
| NM_001364727.1:c.437T>C | NP_001351656.1:p.Val146Ala | |
| XM_005244749.3:c.752T>C | XP_005244806.1:p.Val251Ala | |
| XM_011541429.2:c.752T>C | XP_011539731.1:p.Val251Ala | |
| XR_946650.2:n.823T>C | ||
| NM_001305275.2:c.752T>C | NP_001292204.1:p.Val251Ala | |
| NM_198576.4:c.752T>C MANE Select | NP_940978.2:p.Val251Ala | |
| NM_001364727.2:c.437T>C | NP_001351656.1:p.Val146Ala |