Revel Score:
ENST00000302118 (MANE Select)
0.069
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00002255 (AMR)
Genomes Max Group AF
0.00008881 (AMR)
Exomes Max Group AF
0.0000146 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.55058543C>G , CM000663.2:g.55058543C>G | GRCh38 |
| NC_000001.10:g.55524216C>G , CM000663.1:g.55524216C>G | GRCh37 |
| NC_000001.9:g.55296804C>G | NCBI36 |
| NG_009061.1:g.23997C>G , LRG_275:g.23997C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673913.2:c.1399C>G | ENSP00000501161.2:p.Pro467Ala | |
| ENST00000710286.1:c.1756C>G | ENSP00000518176.1:p.Pro586Ala | |
| ENST00000673903.1:c.1024C>G | ENSP00000501257.1:p.Pro342Ala | |
| ENST00000673913.1:c.139C>G | ENSP00000501161.1:p.Pro47Ala | |
| ENST00000302118.5:c.1399C>G MANE Select | ENSP00000303208.5:p.Pro467Ala | |
| ENST00000490692.1:n.2123C>G | ||
| NM_174936.3:c.1399C>G , LRG_275t1:c.1399C>G | NP_777596.2:p.Pro467Ala | |
| NR_110451.1:n.1006C>G | ||
| XM_011541193.1:c.520C>G | XP_011539495.1:p.Pro174Ala | |
| NM_174936.4:c.1399C>G MANE Select | NP_777596.2:p.Pro467Ala | |
| NR_110451.2:n.1006C>G |