Revel Score:
ENST00000251595 (MANE Select)
0.503
ENST00000534957
0.503
ENST00000397806
0.503
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
7.2e-7 (NFE)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.173506C>T , CM000678.2:g.173506C>T | GRCh38 |
| NC_000016.9:g.223505C>T , CM000678.1:g.223505C>T | GRCh37 |
| NC_000016.8:g.163505C>T | NCBI36 |
| NG_000006.1:g.34369C>T | |
| NG_059186.1:g.1856C>T | |
| NG_059271.1:g.5660C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251595.11:c.335C>T MANE Select | ENSP00000251595.6:p.Ala112Val | |
| ENST00000251595.10:c.335C>T | ENSP00000251595.6:p.Ala112Val | |
| ENST00000397806.1:c.239C>T | ENSP00000380908.1:p.Ala80Val | |
| ENST00000482565.1:n.471C>T | ||
| NM_000517.4:c.335C>T | NP_000508.1:p.Ala112Val | |
| NM_000517.6:c.335C>T MANE Select | NP_000508.1:p.Ala112Val |