Linked Data
ClinVar Variation Id:
1492241
ClinVar RCV Id:
RCV002012371
dbSNP Id:
rs771122302
ExAC:
17:7128363 A / C
gnomAD v2:
17-7128363-A-C
gnomAD v4:
17-7225044-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7225044A>C , CM000679.2:g.7225044A>C | GRCh38 |
| NC_000017.10:g.7128363A>C , CM000679.1:g.7128363A>C | GRCh37 |
| NC_000017.9:g.7069087A>C | NCBI36 |
| NG_007975.1:g.10211A>C | |
| NG_008391.2:g.7T>G | |
| NG_033038.1:g.14501T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1915A>C MANE Select | ENSP00000349297.5:p.Lys639Gln | |
| ENST00000322910.9:c.*1870A>C | ENSP00000325395.5:n.*1870A>C | |
| ENST00000350303.9:c.1849A>C | ENSP00000344152.5:p.Lys617Gln | |
| ENST00000356839.9:c.1915A>C | ENSP00000349297.5:p.Lys639Gln | |
| ENST00000542255.6:c.794A>C | ||
| ENST00000543245.6:c.1984A>C | ENSP00000438689.2:p.Lys662Gln | |
| ENST00000578033.1:n.340A>C | ||
| ENST00000578319.5:n.496A>C | ||
| ENST00000578711.1:n.1540A>C | ||
| ENST00000578809.5:n.487A>C | ||
| ENST00000579425.5:n.1031A>C | ||
| ENST00000583848.5:c.281A>C | ENSP00000466487.1:n.281A>C | |
| ENST00000583850.5:n.686A>C | ||
| ENST00000583858.5:c.846A>C | ||
| NM_000018.3:c.1915A>C | NP_000009.1:p.Lys639Gln | |
| NM_001033859.2:c.1849A>C | NP_001029031.1:p.Lys617Gln | |
| NM_001270447.1:c.1984A>C | NP_001257376.1:p.Lys662Gln | |
| NM_001270448.1:c.1687A>C | NP_001257377.1:p.Lys563Gln | |
| XM_006721516.2:c.1936A>C | XP_006721579.2:p.Lys646Gln | |
| XM_011523829.1:c.1834A>C | XP_011522131.1:p.Lys612Gln | |
| XM_011523830.1:c.1813A>C | XP_011522132.1:p.Lys605Gln | |
| XR_934021.1:n.2018A>C | ||
| XR_934022.1:n.1924A>C | ||
| XR_934023.1:n.1945A>C | ||
| XM_006721516.3:c.1936A>C | XP_006721579.2:p.Lys646Gln | |
| XM_011523829.2:c.1834A>C | XP_011522131.1:p.Lys612Gln | |
| XM_011523830.2:c.1813A>C | XP_011522132.1:p.Lys605Gln | |
| XM_024450741.1:c.1903A>C | XP_024306509.1:p.Lys635Gln | |
| XR_934021.2:n.1970A>C | ||
| XR_934022.2:n.1876A>C | ||
| XR_934023.2:n.1897A>C | ||
| NM_000018.4:c.1915A>C MANE Select | NP_000009.1:p.Lys639Gln | |
| NM_001033859.3:c.1849A>C | NP_001029031.1:p.Lys617Gln | |
| NM_001270447.2:c.1984A>C | NP_001257376.1:p.Lys662Gln | |
| NM_001270448.2:c.1687A>C | NP_001257377.1:p.Lys563Gln |