Revel Score:
ENST00000251047 (MANE Select)
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.13968439 (AFR)
Genomes Max Group AF
0.13542731 (AFR)
Exomes Max Group AF
0.14289114 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.59359129A>G , CM000680.2:g.59359129A>G | GRCh38 |
| NC_000018.9:g.57026361A>G , CM000680.1:g.57026361A>G | GRCh37 |
| NC_000018.8:g.55177341A>G | NCBI36 |
| NG_012097.1:g.5148T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251047.6:c.116T>C MANE Select | ENSP00000251047.4:p.Val39Ala | |
| ENST00000251047.5:c.116T>C | ENSP00000251047.4:p.Val39Ala | |
| ENST00000587561.1:n.137T>C | ||
| NM_005570.3:c.116T>C | NP_005561.1:p.Val39Ala | |
| NM_005570.4:c.116T>C MANE Select | NP_005561.1:p.Val39Ala |