Linked Data
ClinVar Variation Id:
972893
dbSNP Id:
rs11203367
ExAC:
1:17657616 T / C
gnomAD v2:
1-17657616-T-C
gnomAD v3:
1-17331121-T-C
gnomAD v4:
1-17331121-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17331121T>C , CM000663.2:g.17331121T>C | GRCh38 |
| NC_000001.10:g.17657616T>C , CM000663.1:g.17657616T>C | GRCh37 |
| NC_000001.9:g.17530203T>C | NCBI36 |
| NG_023261.2:g.27932T>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000375448.4:c.245T>C MANE Select | ENSP00000364597.4:p.Val82Ala | |
| ENST00000375453.5:c.245T>C | ENSP00000364602.1:p.Val82Ala | |
| ENST00000624583.1:c.166+510A>G | ENSP00000485570.1:n.166+510A>G | |
| NM_012387.2:c.245T>C | NP_036519.2:p.Val82Ala | |
| XM_011541150.1:c.245T>C | XP_011539452.1:p.Val82Ala | |
| XM_011541151.1:c.245T>C | XP_011539453.1:p.Val82Ala | |
| XM_011541153.1:c.245T>C | XP_011539455.1:p.Val82Ala | |
| XM_011541154.1:c.245T>C | XP_011539456.1:p.Val82Ala | |
| XM_011541155.1:c.245T>C | XP_011539457.1:p.Val82Ala | |
| XM_011541156.1:c.245T>C | XP_011539458.1:p.Val82Ala | |
| XM_011541154.2:c.245T>C | XP_011539456.1:p.Val82Ala | |
| NM_012387.3:c.245T>C MANE Select | NP_036519.2:p.Val82Ala |