Revel Score:
ENST00000217260 (MANE Select)
0.793
ENST00000400634
0.793
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000359 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00000262 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.968024T>C , CM000682.2:g.968024T>C | GRCh38 |
| NC_000020.10:g.948667T>C , CM000682.1:g.948667T>C | GRCh37 |
| NC_000020.9:g.896667T>C | NCBI36 |
| NG_013043.1:g.39241A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217260.9:c.194A>G MANE Select | ENSP00000217260.4:p.Gln65Arg | |
| ENST00000217260.8:c.194A>G | ENSP00000217260.4:p.Gln65Arg | |
| ENST00000400634.2:c.194A>G | ENSP00000383475.2:p.Gln65Arg | |
| NM_001029871.3:c.194A>G | NP_001025042.2:p.Gln65Arg | |
| NM_001040007.2:c.194A>G | NP_001035096.1:p.Gln65Arg | |
| XM_011529232.1:c.242A>G | XP_011527534.1:p.Gln81Arg | |
| XM_011529233.1:c.242A>G | XP_011527535.1:p.Gln81Arg | |
| XR_937068.1:n.314A>G | ||
| XR_937069.1:n.309A>G | ||
| XM_017027839.1:c.194A>G | XP_016883328.1:p.Gln65Arg | |
| NM_001029871.4:c.194A>G MANE Select | NP_001025042.2:p.Gln65Arg | |
| NM_001040007.3:c.194A>G | NP_001035096.1:p.Gln65Arg |