Linked Data
dbSNP Id:
rs2038057300
gnomAD v3:
17-81809799-T-C
gnomAD v4:
17-81809799-T-C
MyVariant Identifiers:
chr17:g.79767675T>C (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.81809799T>C , CM000679.2:g.81809799T>C | GRCh38 |
| NC_000017.10:g.79767675T>C , CM000679.1:g.79767675T>C | GRCh37 |
| NG_016409.1:g.8626T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000400723.8:c.78T>C MANE Select | ENSP00000383558.3:p.Ala26= | |
| ENST00000400723.7:c.78T>C | ENSP00000383558.3:p.Ala26= | |
| ENST00000570996.5:c.78T>C | ENSP00000460976.1:p.Ala26= | |
| ENST00000572185.1:n.373T>C | ||
| ENST00000573428.1:c.78T>C | ENSP00000458930.1:p.Ala26= | |
| ENST00000574283.2:n.12T>C | ||
| NM_000160.4:c.78T>C | NP_000151.1:p.Ala26= | |
| XM_006722277.1:c.78T>C | XP_006722340.1:p.Ala26= | |
| XM_011523539.1:c.-149T>C | XP_011521841.1:n.-149T>C | |
| XM_011523540.1:c.-439T>C | XP_011521842.1:n.-439T>C | |
| XM_017024446.1:c.72T>C | XP_016879935.1:p.Ala24= | |
| XM_017024447.1:c.-439T>C | XP_016879936.1:n.-439T>C | |
| NM_000160.5:c.78T>C MANE Select | NP_000151.1:p.Ala26= |