Linked Data
ClinVar Variation Id:
1684586
ClinVar RCV Id:
RCV002246202
dbSNP Id:
rs2101549844
gnomAD v4:
1-108924216-T-C
COSMIC:
COSM3801153
MutSpliceDB:
CA341451957
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108924216T>C , CM000663.2:g.108924216T>C | GRCh38 |
| NC_000001.10:g.109466838T>C , CM000663.1:g.109466838T>C | GRCh37 |
| NC_000001.9:g.109268361T>C | NCBI36 |
| NG_028108.1:g.52236T>C | |
| NG_028108.2:g.53867T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690509.1:c.*45+10409A>G (CLCC1) | ENSP00000510142.1:n.*45+10409A>G | |
| ENST00000264126.9:c.1815+2T>C (GPSM2) MANE Select | ENSP00000264126.3:n.1815+2T>C | |
| ENST00000357393.6:c.-1+39145A>G (AKNAD1) | ENSP00000349968.6:n.-1+39145A>G | |
| ENST00000441735.2:c.1817T>C (GPSM2) | ENSP00000390629.2:p.Val606Ala | |
| ENST00000446797.2:c.1815+2T>C (GPSM2) | ENSP00000392138.2:n.1815+2T>C | |
| ENST00000642355.1:c.1815+2T>C (GPSM2) | ENSP00000496104.1:n.1815+2T>C | |
| ENST00000643643.1:c.904+2T>C (GPSM2) | ||
| ENST00000645164.2:c.1815+2T>C (GPSM2) | ENSP00000496756.2:n.1815+2T>C | |
| ENST00000674700.1:c.1543+1640T>C (GPSM2) | ENSP00000501743.1:n.1543+1640T>C | |
| ENST00000674731.1:c.*532+2T>C (GPSM2) | ENSP00000502401.1:n.*532+2T>C | |
| ENST00000674914.1:c.1866+2T>C (GPSM2) | ENSP00000501579.1:n.1866+2T>C | |
| ENST00000675086.1:c.1638+2T>C (GPSM2) | ENSP00000502476.1:n.1638+2T>C | |
| ENST00000675087.1:c.1866+2T>C (GPSM2) | ENSP00000502020.1:n.1866+2T>C | |
| ENST00000675740.1:n.1430+2T>C (GPSM2) | ||
| ENST00000676184.1:c.1815+2T>C (GPSM2) | ENSP00000502178.1:n.1815+2T>C | |
| ENST00000676404.1:c.*721+2T>C (GPSM2) | ENSP00000502346.1:n.*721+2T>C | |
| ENST00000264126.7:c.1815+2T>C (GPSM2) | ENSP00000264126.3:n.1815+2T>C | |
| ENST00000357393.5:c.114+39145A>G | ENSP00000349968.5:n.114+39145A>G | |
| ENST00000406462.6:c.1815+2T>C (GPSM2) | ENSP00000385510.1:n.1815+2T>C | |
| ENST00000441735.1:c.586T>C (GPSM2) | ||
| NM_013296.4:c.1815+2T>C (GPSM2) | NP_037428.3:n.1815+2T>C | |
| XM_005270787.2:c.1815+2T>C (GPSM2) | XP_005270844.1:n.1815+2T>C | |
| XM_006710589.1:c.1758+2T>C (GPSM2) | XP_006710652.1:n.1758+2T>C | |
| XM_011541301.1:c.1815+2T>C (GPSM2) | XP_011539603.1:n.1815+2T>C | |
| XM_011541302.1:c.1815+2T>C (GPSM2) | XP_011539604.1:n.1815+2T>C | |
| NM_001321038.1:c.1815+2T>C (GPSM2) | NP_001307967.1:n.1815+2T>C | |
| NM_001321039.1:c.1815+2T>C (GPSM2) | NP_001307968.1:n.1815+2T>C | |
| XM_006710589.3:c.1758+2T>C (GPSM2) | XP_006710652.1:n.1758+2T>C | |
| XM_011541301.2:c.1815+2T>C (GPSM2) | XP_011539603.1:n.1815+2T>C | |
| XM_011541302.3:c.1815+2T>C (GPSM2) | XP_011539604.1:n.1815+2T>C | |
| XM_017001097.2:c.1815+2T>C (GPSM2) | XP_016856586.1:n.1815+2T>C | |
| XM_017001098.2:c.1815+2T>C (GPSM2) | XP_016856587.1:n.1815+2T>C | |
| NM_013296.5:c.1815+2T>C (GPSM2) MANE Select | NP_037428.3:n.1815+2T>C | |
| NM_001321038.2:c.1815+2T>C (GPSM2) | NP_001307967.1:n.1815+2T>C | |
| NM_001321039.2:c.1815+2T>C (GPSM2) | NP_001307968.1:n.1815+2T>C | |
| NM_001321039.3:c.1815+2T>C (GPSM2) | NP_001307968.1:n.1815+2T>C |