Linked Data
ClinVar Variation Id:
505415
dbSNP Id:
rs765450533
gnomAD v2:
1-109445828-C-G
gnomAD v3:
1-108903206-C-G
gnomAD v4:
1-108903206-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108903206C>G , CM000663.2:g.108903206C>G | GRCh38 |
| NC_000001.10:g.109445828C>G , CM000663.1:g.109445828C>G | GRCh37 |
| NC_000001.9:g.109247351C>G | NCBI36 |
| NG_028108.1:g.31226C>G | |
| NG_028108.2:g.32857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690509.1:c.*46-20958G>C (CLCC1) | ENSP00000510142.1:n.*46-20958G>C | |
| ENST00000264126.9:c.1034C>G (GPSM2) MANE Select | ENSP00000264126.3:p.Ala345Gly | |
| ENST00000357393.6:c.1-53630G>C (AKNAD1) | ENSP00000349968.6:n.1-53630G>C | |
| ENST00000441735.2:c.1034C>G (GPSM2) | ENSP00000390629.2:p.Ala345Gly | |
| ENST00000446797.2:c.1034C>G (GPSM2) | ENSP00000392138.2:p.Ala345Gly | |
| ENST00000642355.1:c.1034C>G (GPSM2) | ENSP00000496104.1:p.Ala345Gly | |
| ENST00000643643.1:c.123C>G (GPSM2) | ||
| ENST00000643921.1:n.37C>G (GPSM2) | ||
| ENST00000645164.2:c.1034C>G (GPSM2) | ENSP00000496756.2:p.Ala345Gly | |
| ENST00000645255.1:c.556C>G (GPSM2) | ||
| ENST00000674700.1:c.977C>G (GPSM2) | ENSP00000501743.1:p.Ala326Gly | |
| ENST00000674731.1:c.977C>G (GPSM2) | ENSP00000502401.1:p.Ala326Gly | |
| ENST00000674914.1:c.1085C>G (GPSM2) | ENSP00000501579.1:p.Ala362Gly | |
| ENST00000675086.1:c.1034C>G (GPSM2) | ENSP00000502476.1:p.Ala345Gly | |
| ENST00000675087.1:c.1085C>G (GPSM2) | ENSP00000502020.1:p.Ala362Gly | |
| ENST00000675617.1:n.1596C>G (GPSM2) | ||
| ENST00000675776.1:n.1529C>G (GPSM2) | ||
| ENST00000675829.1:n.2731C>G (GPSM2) | ||
| ENST00000676184.1:c.1034C>G (GPSM2) | ENSP00000502178.1:p.Ala345Gly | |
| ENST00000676404.1:c.977C>G (GPSM2) | ENSP00000502346.1:p.Ala326Gly | |
| ENST00000264126.7:c.1034C>G (GPSM2) | ENSP00000264126.3:p.Ala345Gly | |
| ENST00000357393.5:c.115-53630G>C | ENSP00000349968.5:n.115-53630G>C | |
| ENST00000406462.6:c.1034C>G (GPSM2) | ENSP00000385510.1:p.Ala345Gly | |
| NM_013296.4:c.1034C>G (GPSM2) | NP_037428.3:p.Ala345Gly | |
| XM_005270787.2:c.1034C>G (GPSM2) | XP_005270844.1:p.Ala345Gly | |
| XM_006710589.1:c.977C>G (GPSM2) | XP_006710652.1:p.Ala326Gly | |
| XM_011541301.1:c.1034C>G (GPSM2) | XP_011539603.1:p.Ala345Gly | |
| XM_011541302.1:c.1034C>G (GPSM2) | XP_011539604.1:p.Ala345Gly | |
| XM_011541303.1:c.1034C>G (GPSM2) | XP_011539605.1:p.Ala345Gly | |
| NM_001321038.1:c.1034C>G (GPSM2) | NP_001307967.1:p.Ala345Gly | |
| NM_001321039.1:c.1034C>G (GPSM2) | NP_001307968.1:p.Ala345Gly | |
| XM_006710589.3:c.977C>G (GPSM2) | XP_006710652.1:p.Ala326Gly | |
| XM_011541301.2:c.1034C>G (GPSM2) | XP_011539603.1:p.Ala345Gly | |
| XM_011541302.3:c.1034C>G (GPSM2) | XP_011539604.1:p.Ala345Gly | |
| XM_011541303.3:c.1034C>G (GPSM2) | XP_011539605.1:p.Ala345Gly | |
| XM_017001097.2:c.1034C>G (GPSM2) | XP_016856586.1:p.Ala345Gly | |
| XM_017001098.2:c.1034C>G (GPSM2) | XP_016856587.1:p.Ala345Gly | |
| NM_013296.5:c.1034C>G (GPSM2) MANE Select | NP_037428.3:p.Ala345Gly | |
| NM_001321038.2:c.1034C>G (GPSM2) | NP_001307967.1:p.Ala345Gly | |
| NM_001321039.2:c.1034C>G (GPSM2) | NP_001307968.1:p.Ala345Gly | |
| NM_001321039.3:c.1034C>G (GPSM2) | NP_001307968.1:p.Ala345Gly |