ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001298 (NFE)
Exomes Max Group AF
0.00001295 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50915869G>A , CM000676.2:g.50915869G>A | GRCh38 |
| NC_000014.8:g.51382587G>A , CM000676.1:g.51382587G>A | GRCh37 |
| NC_000014.7:g.50452337G>A | NCBI36 |
| NG_012796.1:g.33662C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1195C>T MANE Select | ENSP00000216392.7:p.Arg399Ter | |
| ENST00000216392.7:c.1195C>T | ENSP00000216392.7:p.Arg399Ter | |
| ENST00000528757.2:n.72C>T | ||
| ENST00000532462.5:c.1195C>T | ENSP00000431657.1:p.Arg399Ter | |
| ENST00000544180.6:c.1093C>T | ENSP00000443787.1:p.Arg365Ter | |
| NM_001163940.1:c.1093C>T | NP_001157412.1:p.Arg365Ter | |
| NM_002863.4:c.1195C>T | NP_002854.3:p.Arg399Ter | |
| NM_002863.5:c.1195C>T MANE Select | NP_002854.3:p.Arg399Ter | |
| NM_001163940.2:c.1093C>T | NP_001157412.1:p.Arg365Ter |