Revel Score:
ENST00000320005 (MANE Select)
0.057
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00322009 (AFR)
Genomes Max Group AF
0.00352006 (AFR)
Exomes Max Group AF
0.00253973 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.86743585C>G , CM000670.2:g.86743585C>G | GRCh38 |
| NC_000008.10:g.87755813C>G , CM000670.1:g.87755813C>G | GRCh37 |
| NC_000008.9:g.87824929C>G | NCBI36 |
| NG_016980.1:g.5091G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320005.6:c.43G>C MANE Select | ENSP00000316605.5:p.Gly15Arg | |
| ENST00000681746.1:c.43G>C | ENSP00000505959.1:p.Gly15Arg | |
| ENST00000320005.5:c.43G>C | ENSP00000316605.5:p.Gly15Arg | |
| ENST00000519777.1:n.25G>C | ||
| NM_019098.4:c.43G>C | NP_061971.3:p.Gly15Arg | |
| NM_019098.5:c.43G>C MANE Select | NP_061971.3:p.Gly15Arg |