Revel Score:
ENST00000310581 (MANE Select)
0.308
ENST00000296820
0.308
ENST00000334602
0.308
ENST00000508104
0.308
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008677 (AFR)
Genomes Max Group AF
0.00011239 (AFR)
Exomes Max Group AF
0.00001122 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.1294797G>C , CM000667.2:g.1294797G>C | GRCh38 |
| NC_000005.9:g.1294912G>C , CM000667.1:g.1294912G>C | GRCh37 |
| NC_000005.8:g.1347912G>C | NCBI36 |
| NG_009265.1:g.5251C>G , LRG_343:g.5251C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310581.10:c.193C>G MANE Select | ENSP00000309572.5:p.Pro65Ala | |
| ENST00000656021.1:c.193C>G | ENSP00000499759.1:p.Pro65Ala | |
| ENST00000310581.9:c.193C>G | ENSP00000309572.5:p.Pro65Ala | |
| ENST00000334602.10:c.193C>G | ENSP00000334346.6:p.Pro65Ala | |
| ENST00000460137.6:c.193C>G | ENSP00000425003.1:p.Pro65Ala | |
| ENST00000508104.2:c.193C>G | ENSP00000426042.2:p.Pro65Ala | |
| ENST00000522877.1:n.273C>G | ||
| NM_001193376.1:c.193C>G | NP_001180305.1:p.Pro65Ala | |
| NM_198253.2:c.193C>G , LRG_343t1:c.193C>G | NP_937983.2:p.Pro65Ala | |
| NR_149162.1:n.251C>G | ||
| NR_149163.1:n.251C>G | ||
| NM_001193376.2:c.193C>G | NP_001180305.1:p.Pro65Ala | |
| NM_198253.3:c.193C>G MANE Select | NP_937983.2:p.Pro65Ala | |
| NR_149162.2:n.272C>G | ||
| NR_149163.2:n.272C>G | ||
| NM_001193376.3:c.193C>G | NP_001180305.1:p.Pro65Ala | |
| NR_149162.3:n.272C>G | ||
| NR_149163.3:n.272C>G |