Linked Data
ClinVar Variation Id:
2959929
ClinVar RCV Id:
RCV003812104
dbSNP Id:
rs1282005622
gnomAD v3:
17-7225054-T-C
gnomAD v4:
17-7225054-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225054T>C , CM000679.2:g.7225054T>C | GRCh38 |
| NC_000017.10:g.7128373T>C , CM000679.1:g.7128373T>C | GRCh37 |
| NC_000017.9:g.7069097T>C | NCBI36 |
| NG_007975.1:g.10221T>C | |
| NG_033038.1:g.14491A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1925T>C MANE Select | ENSP00000349297.5:p.Val642Ala | |
| ENST00000322910.9:c.*1880T>C | ENSP00000325395.5:n.*1880T>C | |
| ENST00000350303.9:c.1859T>C | ENSP00000344152.5:p.Val620Ala | |
| ENST00000356839.9:c.1925T>C | ENSP00000349297.5:p.Val642Ala | |
| ENST00000542255.6:c.804T>C | ||
| ENST00000543245.6:c.1994T>C | ENSP00000438689.2:p.Val665Ala | |
| ENST00000578033.1:n.350T>C | ||
| ENST00000578319.5:n.506T>C | ||
| ENST00000578711.1:n.1550T>C | ||
| ENST00000578809.5:n.497T>C | ||
| ENST00000579425.5:n.1041T>C | ||
| ENST00000583848.5:c.291T>C | ENSP00000466487.1:n.291T>C | |
| ENST00000583850.5:n.696T>C | ||
| ENST00000583858.5:c.856T>C | ||
| NM_000018.3:c.1925T>C | NP_000009.1:p.Val642Ala | |
| NM_001033859.2:c.1859T>C | NP_001029031.1:p.Val620Ala | |
| NM_001270447.1:c.1994T>C | NP_001257376.1:p.Val665Ala | |
| NM_001270448.1:c.1697T>C | NP_001257377.1:p.Val566Ala | |
| XM_006721516.2:c.1946T>C | XP_006721579.2:p.Val649Ala | |
| XM_011523829.1:c.1844T>C | XP_011522131.1:p.Val615Ala | |
| XM_011523830.1:c.1823T>C | XP_011522132.1:p.Val608Ala | |
| XR_934021.1:n.2028T>C | ||
| XR_934022.1:n.1934T>C | ||
| XR_934023.1:n.1955T>C | ||
| XM_006721516.3:c.1946T>C | XP_006721579.2:p.Val649Ala | |
| XM_011523829.2:c.1844T>C | XP_011522131.1:p.Val615Ala | |
| XM_011523830.2:c.1823T>C | XP_011522132.1:p.Val608Ala | |
| XM_024450741.1:c.1913T>C | XP_024306509.1:p.Val638Ala | |
| XR_934021.2:n.1980T>C | ||
| XR_934022.2:n.1886T>C | ||
| XR_934023.2:n.1907T>C | ||
| NM_000018.4:c.1925T>C MANE Select | NP_000009.1:p.Val642Ala | |
| NM_001033859.3:c.1859T>C | NP_001029031.1:p.Val620Ala | |
| NM_001270447.2:c.1994T>C | NP_001257376.1:p.Val665Ala | |
| NM_001270448.2:c.1697T>C | NP_001257377.1:p.Val566Ala |