Linked Data
ClinVar Variation Id:
2195972
ClinVar RCV Id:
RCV002633308
dbSNP Id:
rs374898424
gnomAD v2:
17-7128283-C-T
gnomAD v3:
17-7224964-C-T
gnomAD v4:
17-7224964-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.7224964C>T , CM000679.2:g.7224964C>T | GRCh38 |
| NC_000017.10:g.7128283C>T , CM000679.1:g.7128283C>T | GRCh37 |
| NC_000017.9:g.7069007C>T | NCBI36 |
| NG_007975.1:g.10131C>T | |
| NG_008391.2:g.87G>A | |
| NG_033038.1:g.14581G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356839.10:c.1835C>T MANE Select | ENSP00000349297.5:p.Ala612Val | |
| ENST00000322910.9:c.*1790C>T | ENSP00000325395.5:n.*1790C>T | |
| ENST00000350303.9:c.1769C>T | ENSP00000344152.5:p.Ala590Val | |
| ENST00000356839.9:c.1835C>T | ENSP00000349297.5:p.Ala612Val | |
| ENST00000542255.6:c.714C>T | ||
| ENST00000543245.6:c.1904C>T | ENSP00000438689.2:p.Ala635Val | |
| ENST00000578033.1:n.260C>T | ||
| ENST00000578319.5:n.416C>T | ||
| ENST00000578711.1:n.1460C>T | ||
| ENST00000578809.5:n.407C>T | ||
| ENST00000579425.5:n.951C>T | ||
| ENST00000579546.1:c.570C>T | ||
| ENST00000583848.5:c.201C>T | ENSP00000466487.1:n.201C>T | |
| ENST00000583850.5:n.606C>T | ||
| ENST00000583858.5:c.766C>T | ||
| NM_000018.3:c.1835C>T | NP_000009.1:p.Ala612Val | |
| NM_001033859.2:c.1769C>T | NP_001029031.1:p.Ala590Val | |
| NM_001270447.1:c.1904C>T | NP_001257376.1:p.Ala635Val | |
| NM_001270448.1:c.1607C>T | NP_001257377.1:p.Ala536Val | |
| XM_006721516.2:c.1856C>T | XP_006721579.2:p.Ala619Val | |
| XM_011523829.1:c.1754C>T | XP_011522131.1:p.Ala585Val | |
| XM_011523830.1:c.1733C>T | XP_011522132.1:p.Ala578Val | |
| XR_934021.1:n.1938C>T | ||
| XR_934022.1:n.1844C>T | ||
| XR_934023.1:n.1865C>T | ||
| XM_006721516.3:c.1856C>T | XP_006721579.2:p.Ala619Val | |
| XM_011523829.2:c.1754C>T | XP_011522131.1:p.Ala585Val | |
| XM_011523830.2:c.1733C>T | XP_011522132.1:p.Ala578Val | |
| XM_024450741.1:c.1823C>T | XP_024306509.1:p.Ala608Val | |
| XR_934021.2:n.1890C>T | ||
| XR_934022.2:n.1796C>T | ||
| XR_934023.2:n.1817C>T | ||
| NM_000018.4:c.1835C>T MANE Select | NP_000009.1:p.Ala612Val | |
| NM_001033859.3:c.1769C>T | NP_001029031.1:p.Ala590Val | |
| NM_001270447.2:c.1904C>T | NP_001257376.1:p.Ala635Val | |
| NM_001270448.2:c.1607C>T | NP_001257377.1:p.Ala536Val |