Revel Score:
ENST00000360004 (MANE Select)
0.028
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.04892159 (AMR)
Genomes Max Group AF
0.03936585 (NFE)
Exomes Max Group AF
0.05105417 (AMR)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32584361G>C , CM000668.2:g.32584361G>C | GRCh38 |
| NC_000006.11:g.32552138G>C , CM000668.1:g.32552138G>C | GRCh37 |
| NC_000006.10:g.32660116G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000360004.6:c.118C>G MANE Select | ENSP00000353099.5:p.Pro40Ala | |
| ENST00000696610.1:c.*23C>G | ENSP00000512754.1:n.*23C>G | |
| ENST00000696611.1:n.41C>G | ||
| ENST00000696612.1:n.181C>G | ||
| ENST00000696613.1:n.96C>G | ||
| ENST00000696614.1:n.246C>G | ||
| ENST00000360004.5:c.118C>G | ENSP00000353099.5:p.Pro40Ala | |
| ENST00000611060.4:c.118C>G | ENSP00000480667.1:p.Pro40Ala | |
| NM_002124.3:c.118C>G | NP_002115.2:p.Pro40Ala | |
| NM_002124.4:c.118C>G MANE Select | NP_002115.2:p.Pro40Ala |