Linked Data
ClinVar Variation Id:
291690
ClinVar RCV Id:
RCV000352935
dbSNP Id:
rs541910644
gnomAD v3:
1-108877008-C-G
gnomAD v4:
1-108877008-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108877008C>G , CM000663.2:g.108877008C>G | GRCh38 |
| NC_000001.10:g.109419630C>G , CM000663.1:g.109419630C>G | GRCh37 |
| NC_000001.9:g.109221153C>G | NCBI36 |
| NG_028108.1:g.5028C>G | |
| NG_028108.2:g.6659C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264126.9:c.-469C>G (GPSM2) MANE Select | ENSP00000264126.3:n.-469C>G | |
| ENST00000357393.6:c.1-27432G>C (AKNAD1) | ENSP00000349968.6:n.1-27432G>C | |
| ENST00000441735.2:c.-387C>G (GPSM2) | ENSP00000390629.2:n.-387C>G | |
| ENST00000642355.1:c.-469C>G (GPSM2) | ENSP00000496104.1:n.-469C>G | |
| ENST00000643094.1:c.-515C>G (GPSM2) | ENSP00000495317.1:n.-515C>G | |
| ENST00000645164.2:c.-283C>G (GPSM2) | ENSP00000496756.2:n.-283C>G | |
| ENST00000674700.1:c.-222C>G (GPSM2) | ENSP00000501743.1:n.-222C>G | |
| ENST00000674731.1:c.-222C>G (GPSM2) | ENSP00000502401.1:n.-222C>G | |
| ENST00000674914.1:c.-280C>G (GPSM2) | ENSP00000501579.1:n.-280C>G | |
| ENST00000675776.1:n.27C>G (GPSM2) | ||
| ENST00000675829.1:n.49C>G (GPSM2) | ||
| ENST00000676404.1:c.-222C>G (GPSM2) | ENSP00000502346.1:n.-222C>G | |
| ENST00000264126.7:c.-469C>G (GPSM2) | ENSP00000264126.3:n.-469C>G | |
| ENST00000357393.5:c.115-27432G>C | ENSP00000349968.5:n.115-27432G>C | |
| ENST00000406462.6:c.-469C>G (GPSM2) | ENSP00000385510.1:n.-469C>G | |
| ENST00000435987.5:c.-237C>G (GPSM2) | ENSP00000408664.1:n.-237C>G | |
| NM_013296.4:c.-469C>G (GPSM2) | NP_037428.3:n.-469C>G | |
| XM_005270787.2:c.-237C>G (GPSM2) | XP_005270844.1:n.-237C>G | |
| XM_006710589.1:c.-222C>G (GPSM2) | XP_006710652.1:n.-222C>G | |
| XM_011541301.1:c.-469C>G (GPSM2) | XP_011539603.1:n.-469C>G | |
| XM_011541303.1:c.-469C>G (GPSM2) | XP_011539605.1:n.-469C>G | |
| NM_001321038.1:c.-237C>G (GPSM2) | NP_001307967.1:n.-237C>G | |
| NM_001321039.1:c.-469C>G (GPSM2) | NP_001307968.1:n.-469C>G | |
| XM_006710589.3:c.-222C>G (GPSM2) | XP_006710652.1:n.-222C>G | |
| XM_011541301.2:c.-469C>G (GPSM2) | XP_011539603.1:n.-469C>G | |
| XM_011541302.3:c.-713C>G (GPSM2) | XP_011539604.1:n.-713C>G | |
| XM_011541303.3:c.-469C>G (GPSM2) | XP_011539605.1:n.-469C>G | |
| XM_017001097.2:c.-619C>G (GPSM2) | XP_016856586.1:n.-619C>G | |
| XM_017001098.2:c.-387C>G (GPSM2) | XP_016856587.1:n.-387C>G | |
| NM_013296.5:c.-469C>G (GPSM2) MANE Select | NP_037428.3:n.-469C>G | |
| NM_001321038.2:c.-237C>G (GPSM2) | NP_001307967.1:n.-237C>G | |
| NM_001321039.2:c.-469C>G (GPSM2) | NP_001307968.1:n.-469C>G | |
| NM_001321039.3:c.-469C>G (GPSM2) | NP_001307968.1:n.-469C>G |