Linked Data
ClinVar Variation Id:
260281
dbSNP Id:
rs12028832
ExAC:
1:109440740 A / G
gnomAD v2:
1-109440740-A-G
gnomAD v3:
1-108898118-A-G
gnomAD v4:
1-108898118-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108898118A>G , CM000663.2:g.108898118A>G | GRCh38 |
| NC_000001.10:g.109440740A>G , CM000663.1:g.109440740A>G | GRCh37 |
| NC_000001.9:g.109242263A>G | NCBI36 |
| NG_028108.1:g.26138A>G | |
| NG_028108.2:g.27769A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000690509.1:c.*46-15870T>C (CLCC1) | ENSP00000510142.1:n.*46-15870T>C | |
| ENST00000264126.9:c.557+17A>G (GPSM2) MANE Select | ENSP00000264126.3:n.557+17A>G | |
| ENST00000357393.6:c.1-48542T>C (AKNAD1) | ENSP00000349968.6:n.1-48542T>C | |
| ENST00000441735.2:c.557+17A>G (GPSM2) | ENSP00000390629.2:n.557+17A>G | |
| ENST00000446797.2:c.557+17A>G (GPSM2) | ENSP00000392138.2:n.557+17A>G | |
| ENST00000642355.1:c.557+17A>G (GPSM2) | ENSP00000496104.1:n.557+17A>G | |
| ENST00000645164.2:c.557+17A>G (GPSM2) | ENSP00000496756.2:n.557+17A>G | |
| ENST00000645255.1:c.235+17A>G (GPSM2) | ||
| ENST00000674700.1:c.500+17A>G (GPSM2) | ENSP00000501743.1:n.500+17A>G | |
| ENST00000674731.1:c.500+17A>G (GPSM2) | ENSP00000502401.1:n.500+17A>G | |
| ENST00000674914.1:c.608+17A>G (GPSM2) | ENSP00000501579.1:n.608+17A>G | |
| ENST00000675086.1:c.557+17A>G (GPSM2) | ENSP00000502476.1:n.557+17A>G | |
| ENST00000675087.1:c.608+17A>G (GPSM2) | ENSP00000502020.1:n.608+17A>G | |
| ENST00000675617.1:n.1119+17A>G (GPSM2) | ||
| ENST00000675776.1:n.1052+17A>G (GPSM2) | ||
| ENST00000675829.1:n.1074+17A>G (GPSM2) | ||
| ENST00000676184.1:c.557+17A>G (GPSM2) | ENSP00000502178.1:n.557+17A>G | |
| ENST00000676404.1:c.500+17A>G (GPSM2) | ENSP00000502346.1:n.500+17A>G | |
| ENST00000264126.7:c.557+17A>G (GPSM2) | ENSP00000264126.3:n.557+17A>G | |
| ENST00000357393.5:c.115-48542T>C | ENSP00000349968.5:n.115-48542T>C | |
| ENST00000406462.6:c.557+17A>G (GPSM2) | ENSP00000385510.1:n.557+17A>G | |
| ENST00000435987.5:c.557+17A>G (GPSM2) | ENSP00000408664.1:n.557+17A>G | |
| NM_013296.4:c.557+17A>G (GPSM2) | NP_037428.3:n.557+17A>G | |
| XM_005270787.2:c.557+17A>G (GPSM2) | XP_005270844.1:n.557+17A>G | |
| XM_006710589.1:c.500+17A>G (GPSM2) | XP_006710652.1:n.500+17A>G | |
| XM_011541301.1:c.557+17A>G (GPSM2) | XP_011539603.1:n.557+17A>G | |
| XM_011541302.1:c.557+17A>G (GPSM2) | XP_011539604.1:n.557+17A>G | |
| XM_011541303.1:c.557+17A>G (GPSM2) | XP_011539605.1:n.557+17A>G | |
| NM_001321038.1:c.557+17A>G (GPSM2) | NP_001307967.1:n.557+17A>G | |
| NM_001321039.1:c.557+17A>G (GPSM2) | NP_001307968.1:n.557+17A>G | |
| XM_006710589.3:c.500+17A>G (GPSM2) | XP_006710652.1:n.500+17A>G | |
| XM_011541301.2:c.557+17A>G (GPSM2) | XP_011539603.1:n.557+17A>G | |
| XM_011541302.3:c.557+17A>G (GPSM2) | XP_011539604.1:n.557+17A>G | |
| XM_011541303.3:c.557+17A>G (GPSM2) | XP_011539605.1:n.557+17A>G | |
| XM_017001097.2:c.557+17A>G (GPSM2) | XP_016856586.1:n.557+17A>G | |
| XM_017001098.2:c.557+17A>G (GPSM2) | XP_016856587.1:n.557+17A>G | |
| NM_013296.5:c.557+17A>G (GPSM2) MANE Select | NP_037428.3:n.557+17A>G | |
| NM_001321038.2:c.557+17A>G (GPSM2) | NP_001307967.1:n.557+17A>G | |
| NM_001321039.2:c.557+17A>G (GPSM2) | NP_001307968.1:n.557+17A>G | |
| NM_001321039.3:c.557+17A>G (GPSM2) | NP_001307968.1:n.557+17A>G |