Linked Data
ClinVar Variation Id:
2950167
ClinVar RCV Id:
RCV003807525
dbSNP Id:
rs2092926617
MyVariant Identifiers:
chr17:g.40695335C>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42543317C>G , CM000679.2:g.42543317C>G | GRCh38 |
| NC_000017.10:g.40695335C>G , CM000679.1:g.40695335C>G | GRCh37 |
| NC_000017.9:g.37948861C>G | NCBI36 |
| NG_011552.1:g.12385C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.1311C>G MANE Select | ENSP00000225927.1:p.Thr437= | |
| ENST00000225927.6:c.1311C>G | ENSP00000225927.1:p.Thr437= | |
| ENST00000591587.1:c.649C>G | ENSP00000467836.1:n.649C>G | |
| ENST00000592454.1:c.350C>G | ||
| NM_000263.3:c.1311C>G | NP_000254.2:p.Thr437= | |
| XM_006721920.2:c.480C>G | XP_006721983.1:p.Thr160= | |
| XM_011524840.1:c.312C>G | XP_011523142.1:p.Thr104= | |
| XM_017024687.1:c.480C>G | XP_016880176.1:p.Thr160= | |
| XM_024450771.1:c.1368C>G | XP_024306539.1:p.Thr456= | |
| XM_024450772.1:c.312C>G | XP_024306540.1:p.Thr104= | |
| NM_000263.4:c.1311C>G MANE Select | NP_000254.2:p.Thr437= |