ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00002284 (AMR)
Exomes Max Group AF
0.00003039 (AMR)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42079568G>A , CM000677.2:g.42079568G>A | GRCh38 |
| NC_000015.9:g.42371766G>A , CM000677.1:g.42371766G>A | GRCh37 |
| NC_000015.8:g.40159058G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000290472.4:c.1286C>T MANE Select | ENSP00000290472.3:p.Ala429Val | |
| ENST00000290472.3:c.1286C>T | ENSP00000290472.3:p.Ala429Val | |
| NM_178034.3:c.1286C>T | NP_828848.3:p.Ala429Val | |
| XM_011521467.1:c.1118C>T | XP_011519769.1:p.Ala373Val | |
| XR_931798.1:n.1386C>T | ||
| XM_011521467.2:c.1118C>T | XP_011519769.1:p.Ala373Val | |
| XR_931798.2:n.1386C>T | ||
| NM_178034.4:c.1286C>T MANE Select | NP_828848.3:p.Ala429Val |