Revel Score:
ENST00000343257 (MANE Select)
0.983
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002826 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00002828 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321841G>A , CM000669.2:g.143321841G>A | GRCh38 |
| NC_000007.13:g.143018934G>A , CM000669.1:g.143018934G>A | GRCh37 |
| NC_000007.12:g.142729056G>A | NCBI36 |
| NG_009815.1:g.10716G>A | |
| NG_009815.2:g.10716G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.689G>A | ENSP00000498052.2:p.Gly230Glu | |
| ENST00000343257.7:c.689G>A MANE Select | ENSP00000339867.2:p.Gly230Glu | |
| ENST00000432192.6:c.457G>A | ||
| ENST00000455478.6:c.143G>A | ENSP00000400027.2:p.Gly48Glu | |
| ENST00000650516.1:c.689G>A | ENSP00000498052.1:p.Gly230Glu | |
| ENST00000343257.6:c.689G>A | ENSP00000339867.2:p.Gly230Glu | |
| ENST00000432192.5:c.147G>A | ||
| ENST00000455478.5:c.147G>A | ||
| ENST00000495612.1:n.147G>A | ||
| NM_000083.2:c.689G>A | NP_000074.2:p.Gly230Glu | |
| NR_046453.1:n.776G>A | ||
| XM_011515781.1:c.689G>A | XP_011514083.1:p.Gly230Glu | |
| XM_017011739.1:c.396G>A | XP_016867228.1:p.Gly132= | |
| XM_017011740.1:c.396G>A | XP_016867229.1:p.Gly132= | |
| NM_000083.3:c.689G>A MANE Select | NP_000074.3:p.Gly230Glu | |
| NR_046453.2:n.791G>A |