Revel Score:
ENST00000361820 (MANE Select)
0.323
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00007734 (AMR)
Exomes Max Group AF
0.00010433 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.101686816C>A , CM000671.2:g.101686816C>A | GRCh38 |
| NC_000009.11:g.104449098C>A , CM000671.1:g.104449098C>A | GRCh37 |
| NC_000009.10:g.103488919C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361820.6:c.1084G>T MANE Select | ENSP00000355155.3:p.Val362Leu | |
| ENST00000361820.3:c.1084G>T | ENSP00000355155.3:p.Val362Leu | |
| NM_133445.2:c.1084G>T | NP_597702.2:p.Val362Leu | |
| XM_011518211.1:c.1084G>T | XP_011516513.1:p.Val362Leu | |
| XM_011518212.1:c.1084G>T | XP_011516514.1:p.Val362Leu | |
| XR_929711.1:n.1171G>T | ||
| XM_011518211.2:c.1084G>T | XP_011516513.1:p.Val362Leu | |
| NM_133445.3:c.1084G>T MANE Select | NP_597702.2:p.Val362Leu |