Revel Score:
ENST00000294008 (MANE Select)
0.010
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00230206 (NFE)
Genomes Max Group AF
0.00199925 (NFE)
Exomes Max Group AF
0.00230542 (NFE)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3606644A>G , CM000678.2:g.3606644A>G | GRCh38 |
| NC_000016.9:g.3656645A>G , CM000678.1:g.3656645A>G | GRCh37 |
| NC_000016.8:g.3596646A>G | NCBI36 |
| NG_028123.1:g.9941T>C , LRG_503:g.9941T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294008.4:c.590T>C MANE Select | ENSP00000294008.3:p.Val197Ala | |
| ENST00000294008.3:c.590T>C | ENSP00000294008.3:p.Val197Ala | |
| ENST00000466154.5:n.885T>C | ||
| ENST00000486524.1:n.1218T>C | ||
| NM_032444.2:c.590T>C , LRG_503t1:c.590T>C | NP_115820.2:p.Val197Ala | |
| XM_011522715.1:c.590T>C | XP_011521017.1:p.Val197Ala | |
| NM_032444.3:c.590T>C | NP_115820.2:p.Val197Ala | |
| XM_011522715.3:c.590T>C | XP_011521017.1:p.Val197Ala | |
| XM_024450471.1:c.590T>C | XP_024306239.1:p.Val197Ala | |
| NM_032444.4:c.590T>C MANE Select | NP_115820.2:p.Val197Ala |