Linked Data
ClinVar Variation Id:
417034
dbSNP Id:
rs140782750
ExAC:
7:91708613 A / G
gnomAD v2:
7-91708613-A-G
gnomAD v3:
7-92079299-A-G
gnomAD v4:
7-92079299-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.92079299A>G , CM000669.2:g.92079299A>G | GRCh38 |
| NC_000007.13:g.91708613A>G , CM000669.1:g.91708613A>G | GRCh37 |
| NC_000007.12:g.91546549A>G | NCBI36 |
| NG_011623.1:g.143425A>G , LRG_331:g.143425A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356239.8:c.7166A>G MANE Select | ENSP00000348573.3:p.Asp2389Gly | |
| ENST00000359028.7:c.7238A>G | ENSP00000351922.4:p.Asp2413Gly | |
| ENST00000394534.7:c.659A>G | ENSP00000378042.3:p.Asp220Gly | |
| ENST00000491695.2:c.1811A>G | ENSP00000494626.2:p.Asp604Gly | |
| ENST00000674381.2:c.*6895A>G | ENSP00000501536.2:n.*6895A>G | |
| ENST00000679448.1:c.7142A>G | ENSP00000505889.1:p.Asp2381Gly | |
| ENST00000679457.1:c.7142A>G | ENSP00000505450.1:p.Asp2381Gly | |
| ENST00000679474.1:n.7364A>G | ||
| ENST00000679521.1:c.7112A>G | ENSP00000505456.1:p.Asp2371Gly | |
| ENST00000679554.1:c.*6951A>G | ENSP00000506415.1:n.*6951A>G | |
| ENST00000679722.1:n.7388A>G | ||
| ENST00000679821.1:c.6908A>G | ENSP00000506040.1:p.Asp2303Gly | |
| ENST00000680047.1:n.7364A>G | ||
| ENST00000680072.1:c.6989A>G | ENSP00000506581.1:p.Asp2330Gly | |
| ENST00000680181.1:c.7073A>G | ENSP00000505548.1:p.Asp2358Gly | |
| ENST00000680365.1:c.659A>G | ENSP00000506019.1:p.Asp220Gly | |
| ENST00000680513.1:c.7025A>G | ENSP00000505284.1:p.Asp2342Gly | |
| ENST00000680534.1:c.7205A>G | ENSP00000506674.1:p.Asp2402Gly | |
| ENST00000680766.1:c.7142A>G | ENSP00000505204.1:p.Asp2381Gly | |
| ENST00000680952.1:c.7142A>G | ENSP00000506407.1:p.Asp2381Gly | |
| ENST00000681216.1:c.659A>G | ENSP00000505551.1:p.Asp220Gly | |
| ENST00000681412.1:c.7166A>G | ENSP00000506486.1:p.Asp2389Gly | |
| ENST00000681722.1:c.7142A>G | ENSP00000506566.1:p.Asp2381Gly | |
| ENST00000356239.7:c.7166A>G | ENSP00000348573.3:p.Asp2389Gly | |
| ENST00000358100.6:c.7025A>G | ENSP00000350813.3:p.Asp2342Gly | |
| ENST00000359028.6:c.7199A>G | ENSP00000351922.3:p.Asp2400Gly | |
| ENST00000394534.6:c.704A>G | ENSP00000378042.2:p.Asp235Gly | |
| NM_005751.4:c.7166A>G , LRG_331t1:c.7166A>G | NP_005742.4:p.Asp2389Gly | |
| NM_147185.2:c.7142A>G | NP_671714.1:p.Asp2381Gly | |
| XM_006715827.1:c.7025A>G | XP_006715890.1:p.Asp2342Gly | |
| XM_011515709.1:c.7313A>G | XP_011514011.1:p.Asp2438Gly | |
| XM_011515710.1:c.7337A>G | XP_011514012.1:p.Asp2446Gly | |
| XM_011515711.1:c.7277A>G | XP_011514013.1:p.Asp2426Gly | |
| XM_011515712.1:c.7274A>G | XP_011514014.1:p.Asp2425Gly | |
| XM_011515713.1:c.7259A>G | XP_011514015.1:p.Asp2420Gly | |
| XM_011515714.1:c.7298A>G | XP_011514016.1:p.Asp2433Gly | |
| XM_011515716.1:c.7217A>G | XP_011514018.1:p.Asp2406Gly | |
| XM_011515717.1:c.7172A>G | XP_011514019.1:p.Asp2391Gly | |
| XM_011515718.1:c.7202A>G | XP_011514020.1:p.Asp2401Gly | |
| XM_011515719.1:c.7178A>G | XP_011514021.1:p.Asp2393Gly | |
| XM_011515720.1:c.7061A>G | XP_011514022.1:p.Asp2354Gly | |
| XM_011515721.1:c.1826A>G | XP_011514023.1:p.Asp609Gly | |
| XM_011515722.1:c.1787A>G | XP_011514024.1:p.Asp596Gly | |
| XM_017011642.2:c.7301A>G | XP_016867131.1:p.Asp2434Gly | |
| XM_017011643.2:c.7262A>G | XP_016867132.1:p.Asp2421Gly | |
| XM_017011644.2:c.7301A>G | XP_016867133.1:p.Asp2434Gly | |
| XM_017011645.2:c.7247A>G | XP_016867134.1:p.Asp2416Gly | |
| XM_017011646.2:c.7262A>G | XP_016867135.1:p.Asp2421Gly | |
| XM_017011647.2:c.7208A>G | XP_016867136.1:p.Asp2403Gly | |
| XM_017011648.2:c.7205A>G | XP_016867137.1:p.Asp2402Gly | |
| XM_017011649.2:c.7238A>G | XP_016867138.1:p.Asp2413Gly | |
| XM_017011650.2:c.7166A>G | XP_016867139.1:p.Asp2389Gly | |
| XM_017011651.2:c.7160A>G | XP_016867140.1:p.Asp2387Gly | |
| XM_017011652.2:c.7301A>G | XP_016867141.1:p.Asp2434Gly | |
| XM_017011653.2:c.7073A>G | XP_016867142.1:p.Asp2358Gly | |
| XM_017011654.2:c.7025A>G | XP_016867143.1:p.Asp2342Gly | |
| XM_017011655.2:c.6929A>G | XP_016867144.1:p.Asp2310Gly | |
| XM_017011656.2:c.6929A>G | XP_016867145.1:p.Asp2310Gly | |
| XM_017011657.2:c.2966A>G | XP_016867146.1:p.Asp989Gly | |
| XM_017011658.2:c.1850A>G | XP_016867147.1:p.Asp617Gly | |
| XM_017011659.2:c.1811A>G | XP_016867148.1:p.Asp604Gly | |
| XM_017011660.2:c.1811A>G | XP_016867149.1:p.Asp604Gly | |
| XM_024446631.1:c.7064A>G | XP_024302399.1:p.Asp2355Gly | |
| NM_147185.3:c.7142A>G | NP_671714.1:p.Asp2381Gly | |
| NM_001379277.1:c.1811A>G | NP_001366206.1:p.Asp604Gly | |
| NM_005751.5:c.7166A>G MANE Select | NP_005742.4:p.Asp2389Gly |