Revel Score:
ENST00000543138
0.117
ENST00000370132 (MANE Select)
0.117
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.97095585 (EAS)
Genomes Max Group AF
0.94419215 (EAS)
Exomes Max Group AF
0.97203701 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.100206504T>C , CM000663.2:g.100206504T>C | GRCh38 |
| NC_000001.10:g.100672060T>C , CM000663.1:g.100672060T>C | GRCh37 |
| NC_000001.9:g.100444648T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681617.1:c.1276A>G | ENSP00000505544.1:p.Ser426Gly | |
| ENST00000681780.1:c.607A>G | ENSP00000505780.1:p.Ser203Gly | |
| ENST00000370132.8:c.1150A>G MANE Select | ENSP00000359151.3:p.Ser384Gly | |
| XM_005270545.2:c.607A>G | XP_005270602.1:p.Ser203Gly | |
| XM_005270546.2:c.607A>G | XP_005270603.1:p.Ser203Gly | |
| XM_005270545.4:c.607A>G | XP_005270602.1:p.Ser203Gly | |
| XM_017000468.2:c.607A>G | XP_016855957.1:p.Ser203Gly | |
| XM_017000469.2:c.607A>G | XP_016855958.1:p.Ser203Gly | |
| NM_001918.5:c.1150A>G MANE Select | NP_001909.4:p.Ser384Gly | |
| NM_001399969.1:c.607A>G | NP_001386898.1:p.Ser203Gly | |
| NM_001399972.1:c.607A>G | NP_001386901.1:p.Ser203Gly | |
| NR_174363.1:n.982A>G | ||
| NR_174364.1:n.1164A>G | ||
| NR_174365.1:n.947A>G | ||
| NR_174366.1:n.1249A>G |