ClinVar Variation:
COSMIC:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00664815 (NFE)
Genomes Max Group AF
0.00702865 (NFE)
Exomes Max Group AF
0.00659653 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50915919G>A , CM000676.2:g.50915919G>A | GRCh38 |
| NC_000014.8:g.51382637G>A , CM000676.1:g.51382637G>A | GRCh37 |
| NC_000014.7:g.50452387G>A | NCBI36 |
| NG_012796.1:g.33612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1145C>T MANE Select | ENSP00000216392.7:p.Pro382Leu | |
| ENST00000216392.7:c.1145C>T | ENSP00000216392.7:p.Pro382Leu | |
| ENST00000528757.2:n.22C>T | ||
| ENST00000532462.5:c.1145C>T | ENSP00000431657.1:p.Pro382Leu | |
| ENST00000544180.6:c.1043C>T | ENSP00000443787.1:p.Pro348Leu | |
| NM_001163940.1:c.1043C>T | NP_001157412.1:p.Pro348Leu | |
| NM_002863.4:c.1145C>T | NP_002854.3:p.Pro382Leu | |
| NM_002863.5:c.1145C>T MANE Select | NP_002854.3:p.Pro382Leu | |
| NM_001163940.2:c.1043C>T | NP_001157412.1:p.Pro348Leu |