ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00005136 (SAS)
Genomes Max Group AF
0.0000226 (AMR)
Exomes Max Group AF
0.00004578 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50915373C>T , CM000676.2:g.50915373C>T | GRCh38 |
| NC_000014.8:g.51382091C>T , CM000676.1:g.51382091C>T | GRCh37 |
| NC_000014.7:g.50451841C>T | NCBI36 |
| NG_012796.1:g.34158G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.1366G>A MANE Select | ENSP00000216392.7:p.Val456Met | |
| ENST00000216392.7:c.1366G>A | ENSP00000216392.7:p.Val456Met | |
| ENST00000528757.2:n.243G>A | ||
| ENST00000532462.5:c.1366G>A | ENSP00000431657.1:p.Val456Met | |
| ENST00000544180.6:c.1264G>A | ENSP00000443787.1:p.Val422Met | |
| NM_001163940.1:c.1264G>A | NP_001157412.1:p.Val422Met | |
| NM_002863.4:c.1366G>A | NP_002854.3:p.Val456Met | |
| NM_002863.5:c.1366G>A MANE Select | NP_002854.3:p.Val456Met | |
| NM_001163940.2:c.1264G>A | NP_001157412.1:p.Val422Met |