Revel Score:
ENST00000343257 (MANE Select)
0.409
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00003588 (SAS)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00003765 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143350637G>A , CM000669.2:g.143350637G>A | GRCh38 |
| NC_000007.13:g.143047730G>A , CM000669.1:g.143047730G>A | GRCh37 |
| NC_000007.12:g.142757852G>A | NCBI36 |
| NG_009815.1:g.39512G>A | |
| NG_009815.2:g.39512G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.2578G>A | ENSP00000498052.2:p.Val860Ile | |
| ENST00000343257.7:c.2578G>A MANE Select | ENSP00000339867.2:p.Val860Ile | |
| ENST00000432192.6:c.2402G>A | ||
| ENST00000343257.6:c.2578G>A | ENSP00000339867.2:p.Val860Ile | |
| NM_000083.2:c.2578G>A | NP_000074.2:p.Val860Ile | |
| NR_046453.1:n.2518G>A | ||
| XM_011515781.1:c.2602G>A | XP_011514083.1:p.Val868Ile | |
| XM_011515782.1:c.1324G>A | XP_011514084.1:p.Val442Ile | |
| XM_011515782.2:c.1324G>A | XP_011514084.1:p.Val442Ile | |
| XM_017011739.1:c.2152G>A | XP_016867228.1:p.Val718Ile | |
| XM_017011740.1:c.2128G>A | XP_016867229.1:p.Val710Ile | |
| NM_000083.3:c.2578G>A MANE Select | NP_000074.3:p.Val860Ile | |
| NR_046453.2:n.2533G>A |