Linked Data
ClinVar Variation Id:
1468954
ClinVar RCV Id:
RCV001961328
dbSNP Id:
rs778278187
ExAC:
1:7812547 C / G
gnomAD v2:
1-7812547-C-G
gnomAD v4:
1-7752487-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.7752487C>G , CM000663.2:g.7752487C>G | GRCh38 |
| NC_000001.10:g.7812547C>G , CM000663.1:g.7812547C>G | GRCh37 |
| NC_000001.9:g.7735134C>G | NCBI36 |
| NG_053148.1:g.972164C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000710284.1:c.1666C>G | ENSP00000518174.1:p.Gln556Glu | |
| ENST00000710285.1:c.2005C>G | ENSP00000518175.1:p.Gln669Glu | |
| ENST00000476864.2:c.4573C>G | ENSP00000452319.2:p.Gln1525Glu | |
| ENST00000495233.6:c.2234C>G | ||
| ENST00000700414.1:c.*4445C>G | ENSP00000514978.1:n.*4445C>G | |
| ENST00000700415.1:c.4504C>G | ENSP00000514979.1:p.Gln1502Glu | |
| ENST00000700417.1:c.4501C>G | ENSP00000514981.1:p.Gln1501Glu | |
| ENST00000700419.1:c.2758C>G | ENSP00000514983.1:p.Gln920Glu | |
| ENST00000700420.1:c.1963C>G | ENSP00000514994.1:p.Gln655Glu | |
| ENST00000700421.1:c.1984C>G | ENSP00000514995.1:p.Gln662Glu | |
| ENST00000700422.1:n.1086C>G | ||
| ENST00000700423.1:c.1666C>G | ENSP00000514996.1:p.Gln556Glu | |
| ENST00000700424.1:c.1666C>G | ENSP00000514997.1:p.Gln556Glu | |
| ENST00000700425.1:c.1624C>G | ENSP00000514998.1:p.Gln542Glu | |
| ENST00000700445.1:c.2258C>G | ||
| ENST00000700446.1:n.3308C>G | ||
| ENST00000700447.1:n.2592C>G | ||
| ENST00000700448.1:c.596C>G | ||
| ENST00000700449.1:c.116C>G | ||
| ENST00000303635.12:c.4912C>G MANE Select | ENSP00000306522.6:p.Gln1638Glu | |
| ENST00000303635.11:c.4912C>G | ENSP00000306522.6:p.Gln1638Glu | |
| ENST00000476864.1:c.604C>G | ENSP00000452319.1:p.Gln202Glu | |
| ENST00000490905.5:c.609C>G | ||
| ENST00000495233.5:c.1803C>G | ||
| NM_015215.3:c.4912C>G | NP_056030.1:p.Gln1638Glu | |
| XM_011541083.1:c.4933C>G | XP_011539385.1:p.Gln1645Glu | |
| XM_011541084.1:c.4933C>G | XP_011539386.1:p.Gln1645Glu | |
| XM_011541085.1:c.4921C>G | XP_011539387.1:p.Gln1641Glu | |
| XM_011541086.1:c.4912C>G | XP_011539388.1:p.Gln1638Glu | |
| XM_011541087.1:c.4861C>G | XP_011539389.1:p.Gln1621Glu | |
| XM_011541088.1:c.4843C>G | XP_011539390.1:p.Gln1615Glu | |
| XM_011541089.1:c.4594C>G | XP_011539391.1:p.Gln1532Glu | |
| XM_011541090.1:c.4594C>G | XP_011539392.1:p.Gln1532Glu | |
| NM_001349608.1:c.4822C>G | NP_001336537.1:p.Gln1608Glu | |
| NM_001349609.1:c.4594C>G | NP_001336538.1:p.Gln1532Glu | |
| NM_001349610.1:c.4588C>G | NP_001336539.1:p.Gln1530Glu | |
| NM_001349612.1:c.4504C>G | NP_001336541.1:p.Gln1502Glu | |
| NM_001349613.1:c.2041C>G | NP_001336542.1:p.Gln681Glu | |
| NM_001349614.1:c.2005C>G | NP_001336543.1:p.Gln669Glu | |
| NM_001349615.1:c.2005C>G | NP_001336544.1:p.Gln669Glu | |
| NM_001349616.1:c.2005C>G | NP_001336545.1:p.Gln669Glu | |
| NM_001349617.1:c.1984C>G | NP_001336546.1:p.Gln662Glu | |
| NM_001349618.1:c.1984C>G | NP_001336547.1:p.Gln662Glu | |
| NM_001349619.1:c.1666C>G | NP_001336548.1:p.Gln556Glu | |
| NM_001349620.1:c.1666C>G | NP_001336549.1:p.Gln556Glu | |
| NM_001349621.1:c.1666C>G | NP_001336550.1:p.Gln556Glu | |
| NM_001349622.1:c.1666C>G | NP_001336551.1:p.Gln556Glu | |
| NM_001349623.1:c.1645C>G | NP_001336552.1:p.Gln549Glu | |
| NM_001349624.2:c.1645C>G | NP_001336553.1:p.Gln549Glu | |
| NM_001349625.1:c.1645C>G | NP_001336554.1:p.Gln549Glu | |
| NM_001349626.1:c.1645C>G | NP_001336555.1:p.Gln549Glu | |
| XM_011541083.2:c.4933C>G | XP_011539385.1:p.Gln1645Glu | |
| XM_011541084.2:c.4933C>G | XP_011539386.1:p.Gln1645Glu | |
| XM_011541086.3:c.4912C>G | XP_011539388.1:p.Gln1638Glu | |
| XM_011541087.2:c.4861C>G | XP_011539389.1:p.Gln1621Glu | |
| XM_011541088.2:c.4843C>G | XP_011539390.1:p.Gln1615Glu | |
| XM_011541090.3:c.4594C>G | XP_011539392.1:p.Gln1532Glu | |
| XM_017000774.2:c.4933C>G | XP_016856263.1:p.Gln1645Glu | |
| XM_017000777.1:c.4573C>G | XP_016856266.1:p.Gln1525Glu | |
| XM_017000778.1:c.4573C>G | XP_016856267.1:p.Gln1525Glu | |
| XM_024454329.1:c.2194C>G | XP_024310097.1:p.Gln732Glu | |
| XM_024454330.1:c.2173C>G | XP_024310098.1:p.Gln725Glu | |
| XM_024454331.1:c.2005C>G | XP_024310099.1:p.Gln669Glu | |
| XM_024454332.1:c.2005C>G | XP_024310100.1:p.Gln669Glu | |
| XM_024454333.1:c.2005C>G | XP_024310101.1:p.Gln669Glu | |
| XM_024454334.1:c.2005C>G | XP_024310102.1:p.Gln669Glu | |
| XM_024454335.1:c.2005C>G | XP_024310103.1:p.Gln669Glu | |
| XM_024454338.1:c.1666C>G | XP_024310106.1:p.Gln556Glu | |
| NM_015215.4:c.4912C>G MANE Select | NP_056030.1:p.Gln1638Glu | |
| NM_001349608.2:c.4822C>G | NP_001336537.1:p.Gln1608Glu | |
| NM_001349609.2:c.4594C>G | NP_001336538.1:p.Gln1532Glu | |
| NM_001349610.2:c.4588C>G | NP_001336539.1:p.Gln1530Glu | |
| NM_001349612.2:c.4504C>G | NP_001336541.1:p.Gln1502Glu | |
| NM_001349615.2:c.2005C>G | NP_001336544.1:p.Gln669Glu | |
| NM_001349616.2:c.2005C>G | NP_001336545.1:p.Gln669Glu | |
| NM_001349618.2:c.1984C>G | NP_001336547.1:p.Gln662Glu | |
| NM_001349619.2:c.1666C>G | NP_001336548.1:p.Gln556Glu | |
| NM_001349622.2:c.1666C>G | NP_001336551.1:p.Gln556Glu | |
| NM_001349624.3:c.1645C>G | NP_001336553.1:p.Gln549Glu | |
| NM_001349626.2:c.1645C>G | NP_001336555.1:p.Gln549Glu | |
| NM_001349625.2:c.1645C>G | NP_001336554.1:p.Gln549Glu |