Revel Score:
ENST00000343257 (MANE Select)
0.774
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00071377 (NFE)
Genomes Max Group AF
0.00049451 (NFE)
Exomes Max Group AF
0.00071972 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339304A>G , CM000669.2:g.143339304A>G | GRCh38 |
| NC_000007.13:g.143036397A>G , CM000669.1:g.143036397A>G | GRCh37 |
| NC_000007.12:g.142746519A>G | NCBI36 |
| NG_009815.1:g.28179A>G | |
| NG_009815.2:g.28179A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.1453A>G | ENSP00000498052.2:p.Met485Val | |
| ENST00000343257.7:c.1453A>G MANE Select | ENSP00000339867.2:p.Met485Val | |
| ENST00000432192.6:c.1277A>G | ||
| ENST00000343257.6:c.1453A>G | ENSP00000339867.2:p.Met485Val | |
| NM_000083.2:c.1453A>G | NP_000074.2:p.Met485Val | |
| NR_046453.1:n.1393A>G | ||
| XM_011515781.1:c.1477A>G | XP_011514083.1:p.Met493Val | |
| XM_011515782.1:c.199A>G | XP_011514084.1:p.Met67Val | |
| XM_011515782.2:c.199A>G | XP_011514084.1:p.Met67Val | |
| XM_017011739.1:c.1027A>G | XP_016867228.1:p.Met343Val | |
| XM_017011740.1:c.1003A>G | XP_016867229.1:p.Met335Val | |
| NM_000083.3:c.1453A>G MANE Select | NP_000074.3:p.Met485Val | |
| NR_046453.2:n.1408A>G |