COSMIC:
COSM4997880 (not active)
Revel Score:
ENST00000361820 (MANE Select)
0.411
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.48059099 (AFR)
Genomes Max Group AF
0.4751078 (AFR)
Exomes Max Group AF
0.48353951 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101686816C>T , CM000671.2:g.101686816C>T | GRCh38 |
| NC_000009.11:g.104449098C>T , CM000671.1:g.104449098C>T | GRCh37 |
| NC_000009.10:g.103488919C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.1084G>A MANE Select | ENSP00000355155.3:p.Val362Met | |
| ENST00000361820.3:c.1084G>A | ENSP00000355155.3:p.Val362Met | |
| NM_133445.2:c.1084G>A | NP_597702.2:p.Val362Met | |
| XM_011518211.1:c.1084G>A | XP_011516513.1:p.Val362Met | |
| XM_011518212.1:c.1084G>A | XP_011516514.1:p.Val362Met | |
| XR_929711.1:n.1171G>A | ||
| XM_011518211.2:c.1084G>A | XP_011516513.1:p.Val362Met | |
| NM_133445.3:c.1084G>A MANE Select | NP_597702.2:p.Val362Met |