Linked Data
ClinVar Variation Id:
291698
dbSNP Id:
rs35520362
gnomAD v2:
1-109419841-C-T
gnomAD v3:
1-108877219-C-T
gnomAD v4:
1-108877219-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108877219C>T , CM000663.2:g.108877219C>T | GRCh38 |
| NC_000001.10:g.109419841C>T , CM000663.1:g.109419841C>T | GRCh37 |
| NC_000001.9:g.109221364C>T | NCBI36 |
| NG_028108.1:g.5239C>T | |
| NG_028108.2:g.6870C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264126.9:c.-258C>T (GPSM2) MANE Select | ENSP00000264126.3:n.-258C>T | |
| ENST00000357393.6:c.1-27643G>A (AKNAD1) | ENSP00000349968.6:n.1-27643G>A | |
| ENST00000441735.2:c.-176C>T (GPSM2) | ENSP00000390629.2:n.-176C>T | |
| ENST00000642355.1:c.-258C>T (GPSM2) | ENSP00000496104.1:n.-258C>T | |
| ENST00000643094.1:c.-304C>T (GPSM2) | ENSP00000495317.1:n.-304C>T | |
| ENST00000645164.2:c.-72C>T (GPSM2) | ENSP00000496756.2:n.-72C>T | |
| ENST00000674700.1:c.-11C>T (GPSM2) | ENSP00000501743.1:n.-11C>T | |
| ENST00000674731.1:c.-11C>T (GPSM2) | ENSP00000502401.1:n.-11C>T | |
| ENST00000674914.1:c.-69C>T (GPSM2) | ENSP00000501579.1:n.-69C>T | |
| ENST00000675086.1:c.-258C>T (GPSM2) | ENSP00000502476.1:n.-258C>T | |
| ENST00000675087.1:c.-219C>T (GPSM2) | ENSP00000502020.1:n.-219C>T | |
| ENST00000675617.1:n.61C>T (GPSM2) | ||
| ENST00000675776.1:n.238C>T (GPSM2) | ||
| ENST00000675829.1:n.260C>T (GPSM2) | ||
| ENST00000676184.1:c.-176C>T (GPSM2) | ENSP00000502178.1:n.-176C>T | |
| ENST00000676404.1:c.-11C>T (GPSM2) | ENSP00000502346.1:n.-11C>T | |
| ENST00000264126.7:c.-258C>T (GPSM2) | ENSP00000264126.3:n.-258C>T | |
| ENST00000357393.5:c.115-27643G>A | ENSP00000349968.5:n.115-27643G>A | |
| ENST00000406462.6:c.-258C>T (GPSM2) | ENSP00000385510.1:n.-258C>T | |
| ENST00000435987.5:c.-26C>T (GPSM2) | ENSP00000408664.1:n.-26C>T | |
| NM_013296.4:c.-258C>T (GPSM2) | NP_037428.3:n.-258C>T | |
| XM_005270787.2:c.-26C>T (GPSM2) | XP_005270844.1:n.-26C>T | |
| XM_006710589.1:c.-11C>T (GPSM2) | XP_006710652.1:n.-11C>T | |
| XM_011541301.1:c.-258C>T (GPSM2) | XP_011539603.1:n.-258C>T | |
| XM_011541303.1:c.-258C>T (GPSM2) | XP_011539605.1:n.-258C>T | |
| NM_001321038.1:c.-26C>T (GPSM2) | NP_001307967.1:n.-26C>T | |
| NM_001321039.1:c.-258C>T (GPSM2) | NP_001307968.1:n.-258C>T | |
| XM_006710589.3:c.-11C>T (GPSM2) | XP_006710652.1:n.-11C>T | |
| XM_011541301.2:c.-258C>T (GPSM2) | XP_011539603.1:n.-258C>T | |
| XM_011541302.3:c.-502C>T (GPSM2) | XP_011539604.1:n.-502C>T | |
| XM_011541303.3:c.-258C>T (GPSM2) | XP_011539605.1:n.-258C>T | |
| XM_017001097.2:c.-408C>T (GPSM2) | XP_016856586.1:n.-408C>T | |
| XM_017001098.2:c.-176C>T (GPSM2) | XP_016856587.1:n.-176C>T | |
| NM_013296.5:c.-258C>T (GPSM2) MANE Select | NP_037428.3:n.-258C>T | |
| NM_001321038.2:c.-26C>T (GPSM2) | NP_001307967.1:n.-26C>T | |
| NM_001321039.2:c.-258C>T (GPSM2) | NP_001307968.1:n.-258C>T | |
| NM_001321039.3:c.-258C>T (GPSM2) | NP_001307968.1:n.-258C>T |