ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000247 (NFE)
Exomes Max Group AF
0.00000263 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.197091032G>A , CM000663.2:g.197091032G>A | GRCh38 |
| NC_000001.10:g.197060162G>A , CM000663.1:g.197060162G>A | GRCh37 |
| NC_000001.9:g.195326785G>A | NCBI36 |
| NG_015867.1:g.60663C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000367408.6:n.2741C>T | ||
| ENST00000367409.9:c.9454C>T MANE Select | ENSP00000356379.4:p.Arg3152Ter | |
| ENST00000680265.1:c.9676C>T | ENSP00000505384.1:p.Arg3226Ter | |
| ENST00000680710.1:c.9430C>T | ENSP00000506676.1:p.Arg3144Ter | |
| ENST00000294732.11:c.4699C>T | ENSP00000294732.7:p.Arg1567Ter | |
| ENST00000367408.5:c.2449C>T | ENSP00000356378.1:p.Arg817Ter | |
| ENST00000367409.8:c.9454C>T | ENSP00000356379.4:p.Arg3152Ter | |
| ENST00000612785.1:c.3412C>T | ENSP00000479244.1:p.Arg1138Ter | |
| NM_001206846.1:c.4699C>T | NP_001193775.1:p.Arg1567Ter | |
| NM_018136.4:c.9454C>T | NP_060606.3:p.Arg3152Ter | |
| NM_018136.5:c.9454C>T MANE Select | NP_060606.3:p.Arg3152Ter | |
| NM_001206846.2:c.4699C>T | NP_001193775.1:p.Arg1567Ter |