Revel Score:
ENST00000330883
0.703
ENST00000392968
0.703
ENST00000262186 (MANE Select)
0.703
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017689 (AFR)
Genomes Max Group AF
0.00014883 (AFR)
Exomes Max Group AF
0.00013995 (AFR)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.150947004T>C , CM000669.2:g.150947004T>C | GRCh38 |
| NC_000007.13:g.150644092T>C , CM000669.1:g.150644092T>C | GRCh37 |
| NC_000007.12:g.150275025T>C | NCBI36 |
| NG_008916.1:g.35923A>G , LRG_288:g.35923A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684241.1:n.4036A>G | ||
| ENST00000262186.10:c.3203A>G MANE Select | ENSP00000262186.5:p.Gln1068Arg | |
| ENST00000330883.9:c.2183A>G | ENSP00000328531.4:p.Gln728Arg | |
| ENST00000262186.9:c.3203A>G | ENSP00000262186.5:p.Gln1068Arg | |
| ENST00000330883.8:c.2183A>G | ENSP00000328531.4:p.Gln728Arg | |
| NM_000238.3:c.3203A>G , LRG_288t1:c.3203A>G | NP_000229.1:p.Gln1068Arg | |
| NM_172057.2:c.2183A>G , LRG_288t3:c.2183A>G | NP_742054.1:p.Gln728Arg | |
| XM_011516185.1:c.2903A>G | XP_011514487.1:p.Gln968Arg | |
| XM_011516185.2:c.2903A>G | XP_011514487.1:p.Gln968Arg | |
| XM_017012195.1:c.3053A>G | XP_016867684.1:p.Gln1018Arg | |
| XM_017012196.1:c.3026A>G | XP_016867685.1:p.Gln1009Arg | |
| NM_000238.4:c.3203A>G MANE Select | NP_000229.1:p.Gln1068Arg | |
| NM_172057.3:c.2183A>G | NP_742054.1:p.Gln728Arg |