Linked Data
ClinVar Variation Id:
1305244
ClinVar RCV Id:
RCV001768451
dbSNP Id:
rs762107426
ExAC:
1:109465091 G / A
gnomAD v2:
1-109465091-G-A
gnomAD v3:
1-108922469-G-A
gnomAD v4:
1-108922469-G-A
COSMIC:
COSM3417826
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108922469G>A , CM000663.2:g.108922469G>A | GRCh38 |
| NC_000001.10:g.109465091G>A , CM000663.1:g.109465091G>A | GRCh37 |
| NC_000001.9:g.109266614G>A | NCBI36 |
| NG_028108.1:g.50489G>A | |
| NG_028108.2:g.52120G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690509.1:c.*45+12156C>T (CLCC1) | ENSP00000510142.1:n.*45+12156C>T | |
| ENST00000264126.9:c.1493G>A (GPSM2) MANE Select | ENSP00000264126.3:p.Arg498Gln | |
| ENST00000357393.6:c.-1+40892C>T (AKNAD1) | ENSP00000349968.6:n.-1+40892C>T | |
| ENST00000441735.2:c.1493G>A (GPSM2) | ENSP00000390629.2:p.Arg498Gln | |
| ENST00000446797.2:c.1493G>A (GPSM2) | ENSP00000392138.2:p.Arg498Gln | |
| ENST00000642355.1:c.1493G>A (GPSM2) | ENSP00000496104.1:p.Arg498Gln | |
| ENST00000643643.1:c.582G>A (GPSM2) | ||
| ENST00000645164.2:c.1493G>A (GPSM2) | ENSP00000496756.2:p.Arg498Gln | |
| ENST00000674700.1:c.1436G>A (GPSM2) | ENSP00000501743.1:p.Arg479Gln | |
| ENST00000674731.1:c.*210G>A (GPSM2) | ENSP00000502401.1:n.*210G>A | |
| ENST00000674914.1:c.1544G>A (GPSM2) | ENSP00000501579.1:p.Arg515Gln | |
| ENST00000675086.1:c.1316G>A (GPSM2) | ENSP00000502476.1:p.Arg439Gln | |
| ENST00000675087.1:c.1544G>A (GPSM2) | ENSP00000502020.1:p.Arg515Gln | |
| ENST00000675740.1:n.1216-1531G>A (GPSM2) | ||
| ENST00000676184.1:c.1493G>A (GPSM2) | ENSP00000502178.1:p.Arg498Gln | |
| ENST00000676404.1:c.*399G>A (GPSM2) | ENSP00000502346.1:n.*399G>A | |
| ENST00000264126.7:c.1493G>A (GPSM2) | ENSP00000264126.3:p.Arg498Gln | |
| ENST00000357393.5:c.114+40892C>T | ENSP00000349968.5:n.114+40892C>T | |
| ENST00000406462.6:c.1493G>A (GPSM2) | ENSP00000385510.1:p.Arg498Gln | |
| ENST00000441735.1:c.262G>A (GPSM2) | ||
| NM_013296.4:c.1493G>A (GPSM2) | NP_037428.3:p.Arg498Gln | |
| XM_005270787.2:c.1493G>A (GPSM2) | XP_005270844.1:p.Arg498Gln | |
| XM_006710589.1:c.1436G>A (GPSM2) | XP_006710652.1:p.Arg479Gln | |
| XM_011541301.1:c.1493G>A (GPSM2) | XP_011539603.1:p.Arg498Gln | |
| XM_011541302.1:c.1493G>A (GPSM2) | XP_011539604.1:p.Arg498Gln | |
| NM_001321038.1:c.1493G>A (GPSM2) | NP_001307967.1:p.Arg498Gln | |
| NM_001321039.1:c.1493G>A (GPSM2) | NP_001307968.1:p.Arg498Gln | |
| XM_006710589.3:c.1436G>A (GPSM2) | XP_006710652.1:p.Arg479Gln | |
| XM_011541301.2:c.1493G>A (GPSM2) | XP_011539603.1:p.Arg498Gln | |
| XM_011541302.3:c.1493G>A (GPSM2) | XP_011539604.1:p.Arg498Gln | |
| XM_017001097.2:c.1493G>A (GPSM2) | XP_016856586.1:p.Arg498Gln | |
| XM_017001098.2:c.1493G>A (GPSM2) | XP_016856587.1:p.Arg498Gln | |
| NM_013296.5:c.1493G>A (GPSM2) MANE Select | NP_037428.3:p.Arg498Gln | |
| NM_001321038.2:c.1493G>A (GPSM2) | NP_001307967.1:p.Arg498Gln | |
| NM_001321039.2:c.1493G>A (GPSM2) | NP_001307968.1:p.Arg498Gln | |
| NM_001321039.3:c.1493G>A (GPSM2) | NP_001307968.1:p.Arg498Gln |