ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000365 (SAS)
Exomes Max Group AF
0.00000385 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197090929G>C , CM000663.2:g.197090929G>C | GRCh38 |
| NC_000001.10:g.197060059G>C , CM000663.1:g.197060059G>C | GRCh37 |
| NC_000001.9:g.195326682G>C | NCBI36 |
| NG_015867.1:g.60766C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2844C>G | ||
| ENST00000367409.9:c.9557C>G MANE Select | ENSP00000356379.4:p.Ser3186Ter | |
| ENST00000680265.1:c.9779C>G | ENSP00000505384.1:p.Ser3260Ter | |
| ENST00000680710.1:c.9533C>G | ENSP00000506676.1:p.Ser3178Ter | |
| ENST00000294732.11:c.4802C>G | ENSP00000294732.7:p.Ser1601Ter | |
| ENST00000367408.5:c.2552C>G | ENSP00000356378.1:p.Ser851Ter | |
| ENST00000367409.8:c.9557C>G | ENSP00000356379.4:p.Ser3186Ter | |
| ENST00000612785.1:c.3515C>G | ENSP00000479244.1:p.Ser1172Ter | |
| NM_001206846.1:c.4802C>G | NP_001193775.1:p.Ser1601Ter | |
| NM_018136.4:c.9557C>G | NP_060606.3:p.Ser3186Ter | |
| NM_018136.5:c.9557C>G MANE Select | NP_060606.3:p.Ser3186Ter | |
| NM_001206846.2:c.4802C>G | NP_001193775.1:p.Ser1601Ter |