Revel Score:
ENST00000482457 (MANE Select)
0.029
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.80772382 (AFR)
Genomes Max Group AF
0.79783802 (AFR)
Exomes Max Group AF
0.81499526 (AFR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.114236317T>G , CM000665.2:g.114236317T>G | GRCh38 |
| NC_000003.11:g.113955164T>G , CM000665.1:g.113955164T>G | GRCh37 |
| NC_000003.10:g.115437854T>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000482457.4:c.758A>C MANE Select | ENSP00000417192.3:p.Asp253Ala | |
| ENST00000308095.4:c.758A>C | ENSP00000309812.4:p.Asp253Ala | |
| ENST00000482457.3:c.758A>C | ENSP00000417192.2:p.Asp253Ala | |
| ENST00000619534.1:c.758A>C | ENSP00000483565.1:p.Asp253Ala | |
| NM_007136.3:c.758A>C | NP_009067.2:p.Asp253Ala | |
| NM_007136.4:c.758A>C MANE Select | NP_009067.2:p.Asp253Ala |