Revel Score:
ENST00000375499 (MANE Select)
0.564
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04045172 (AFR)
Genomes Max Group AF
0.04032779 (AFR)
Exomes Max Group AF
0.03948926 (AFR)
ClinVar RCV:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17054012G>C , CM000663.2:g.17054012G>C | GRCh38 |
| NC_000001.10:g.17380507G>C , CM000663.1:g.17380507G>C | GRCh37 |
| NC_000001.9:g.17253094G>C | NCBI36 |
| NG_012340.1:g.5159C>G , LRG_316:g.5159C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375499.8:c.8C>G MANE Select | ENSP00000364649.3:p.Ala3Gly | |
| ENST00000375499.7:c.8C>G | ENSP00000364649.3:p.Ala3Gly | |
| ENST00000466613.2:n.20C>G | ||
| NM_003000.2:c.8C>G , LRG_316t1:c.8C>G | NP_002991.2:p.Ala3Gly | |
| NM_003000.3:c.8C>G MANE Select | NP_002991.2:p.Ala3Gly |