Linked Data
ClinVar Variation Id:
291689
ClinVar RCV Id:
RCV000323751
dbSNP Id:
rs190373749
gnomAD v2:
1-109419613-G-C
gnomAD v3:
1-108876991-G-C
gnomAD v4:
1-108876991-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.108876991G>C , CM000663.2:g.108876991G>C | GRCh38 |
| NC_000001.10:g.109419613G>C , CM000663.1:g.109419613G>C | GRCh37 |
| NC_000001.9:g.109221136G>C | NCBI36 |
| NG_028108.1:g.5011G>C | |
| NG_028108.2:g.6642G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264126.9:c.-486G>C (GPSM2) MANE Select | ENSP00000264126.3:n.-486G>C | |
| ENST00000357393.6:c.1-27415C>G (AKNAD1) | ENSP00000349968.6:n.1-27415C>G | |
| ENST00000441735.2:c.-404G>C (GPSM2) | ENSP00000390629.2:n.-404G>C | |
| ENST00000642355.1:c.-486G>C (GPSM2) | ENSP00000496104.1:n.-486G>C | |
| ENST00000645164.2:c.-300G>C (GPSM2) | ENSP00000496756.2:n.-300G>C | |
| ENST00000675776.1:n.10G>C (GPSM2) | ||
| ENST00000675829.1:n.32G>C (GPSM2) | ||
| ENST00000676404.1:c.-239G>C (GPSM2) | ENSP00000502346.1:n.-239G>C | |
| ENST00000264126.7:c.-486G>C (GPSM2) | ENSP00000264126.3:n.-486G>C | |
| ENST00000357393.5:c.115-27415C>G | ENSP00000349968.5:n.115-27415C>G | |
| ENST00000406462.6:c.-486G>C (GPSM2) | ENSP00000385510.1:n.-486G>C | |
| ENST00000435987.5:c.-254G>C (GPSM2) | ENSP00000408664.1:n.-254G>C | |
| NM_013296.4:c.-486G>C (GPSM2) | NP_037428.3:n.-486G>C | |
| XM_005270787.2:c.-254G>C (GPSM2) | XP_005270844.1:n.-254G>C | |
| XM_006710589.1:c.-239G>C (GPSM2) | XP_006710652.1:n.-239G>C | |
| XM_011541301.1:c.-486G>C (GPSM2) | XP_011539603.1:n.-486G>C | |
| XM_011541303.1:c.-486G>C (GPSM2) | XP_011539605.1:n.-486G>C | |
| NM_001321038.1:c.-254G>C (GPSM2) | NP_001307967.1:n.-254G>C | |
| NM_001321039.1:c.-486G>C (GPSM2) | NP_001307968.1:n.-486G>C | |
| XM_006710589.3:c.-239G>C (GPSM2) | XP_006710652.1:n.-239G>C | |
| XM_011541301.2:c.-486G>C (GPSM2) | XP_011539603.1:n.-486G>C | |
| XM_011541302.3:c.-730G>C (GPSM2) | XP_011539604.1:n.-730G>C | |
| XM_011541303.3:c.-486G>C (GPSM2) | XP_011539605.1:n.-486G>C | |
| XM_017001097.2:c.-636G>C (GPSM2) | XP_016856586.1:n.-636G>C | |
| XM_017001098.2:c.-404G>C (GPSM2) | XP_016856587.1:n.-404G>C | |
| NM_013296.5:c.-486G>C (GPSM2) MANE Select | NP_037428.3:n.-486G>C | |
| NM_001321038.2:c.-254G>C (GPSM2) | NP_001307967.1:n.-254G>C | |
| NM_001321039.2:c.-486G>C (GPSM2) | NP_001307968.1:n.-486G>C | |
| NM_001321039.3:c.-486G>C (GPSM2) | NP_001307968.1:n.-486G>C |