Revel Score:
ENST00000439128
0.171
ENST00000511633
0.171
ENST00000510533
0.171
ENST00000507142 (MANE Select)
0.171
ENST00000512193
0.171
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00019213 (EAS)
Exomes Max Group AF
0.00019839 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.169477307G>C , CM000666.2:g.169477307G>C | GRCh38 |
| NC_000004.11:g.170398458G>C , CM000666.1:g.170398458G>C | GRCh37 |
| NC_000004.10:g.170635033G>C | NCBI36 |
| NG_027982.1:g.140321C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685111.1:c.2083C>G | ENSP00000508844.1:p.Gln695Glu | |
| ENST00000685677.1:n.1549C>G | ||
| ENST00000686697.1:c.1945C>G | ENSP00000508689.1:p.Gln649Glu | |
| ENST00000687054.1:n.2745C>G | ||
| ENST00000687528.1:c.*986C>G | ENSP00000510228.1:n.*986C>G | |
| ENST00000687643.1:c.2194C>G | ENSP00000509309.1:p.Gln732Glu | |
| ENST00000688934.1:c.274C>G | ENSP00000510760.1:p.Gln92Glu | |
| ENST00000690540.1:n.1701C>G | ||
| ENST00000507142.6:c.2251C>G MANE Select | ENSP00000424757.2:p.Gln751Glu | |
| ENST00000638824.1:n.379C>G | ||
| ENST00000439128.6:c.2167C>G | ENSP00000408020.2:p.Gln723Glu | |
| ENST00000507142.5:c.2251C>G | ENSP00000424757.1:p.Gln751Glu | |
| ENST00000510533.5:c.2035C>G | ENSP00000427653.1:p.Gln679Glu | |
| ENST00000511633.5:c.2119C>G | ENSP00000423332.1:p.Gln707Glu | |
| ENST00000512193.5:c.1960C>G | ENSP00000424938.1:p.Gln654Glu | |
| NM_001199397.1:c.2251C>G | NP_001186326.1:p.Gln751Glu | |
| NM_001199398.1:c.2119C>G | NP_001186327.1:p.Gln707Glu | |
| NM_001199399.1:c.1960C>G | NP_001186328.1:p.Gln654Glu | |
| NM_001199400.1:c.2035C>G | NP_001186329.1:p.Gln679Glu | |
| NM_012224.2:c.2167C>G | NP_036356.1:p.Gln723Glu | |
| XM_006714228.1:c.2251C>G | XP_006714291.1:p.Gln751Glu | |
| XM_011532003.1:c.2167C>G | XP_011530305.1:p.Gln723Glu | |
| XM_011532004.1:c.2035C>G | XP_011530306.1:p.Gln679Glu | |
| XM_017008249.1:c.1630C>G | XP_016863738.1:p.Gln544Glu | |
| XM_017008251.1:c.1546C>G | XP_016863740.1:p.Gln516Glu | |
| XM_017008252.2:c.1546C>G | XP_016863741.1:p.Gln516Glu | |
| XM_017008253.1:c.1099C>G | XP_016863742.1:p.Gln367Glu | |
| XM_017008254.1:c.895C>G | XP_016863743.1:p.Gln299Glu | |
| XM_024454065.1:c.1630C>G | XP_024309833.1:p.Gln544Glu | |
| XR_001741233.1:n.2719+2096C>G | ||
| XR_001741234.2:n.3527C>G | ||
| NM_001199397.3:c.2251C>G MANE Select | NP_001186326.1:p.Gln751Glu | |
| NM_001199398.2:c.2119C>G | NP_001186327.1:p.Gln707Glu | |
| NM_001199399.2:c.1960C>G | NP_001186328.1:p.Gln654Glu | |
| NM_001199400.2:c.2035C>G | NP_001186329.1:p.Gln679Glu | |
| NM_001374418.1:c.2251C>G | NP_001361347.1:p.Gln751Glu | |
| NM_001374419.1:c.2167C>G | NP_001361348.1:p.Gln723Glu | |
| NM_001374420.1:c.2116C>G | NP_001361349.1:p.Gln706Glu | |
| NM_001374421.1:c.1945C>G | NP_001361350.1:p.Gln649Glu | |
| NM_012224.3:c.2167C>G | NP_036356.1:p.Gln723Glu | |
| NR_164630.1:n.2713C>G | ||
| NM_001199398.3:c.2119C>G | NP_001186327.1:p.Gln707Glu | |
| NM_001199399.3:c.1960C>G | NP_001186328.1:p.Gln654Glu | |
| NM_001199400.3:c.2035C>G | NP_001186329.1:p.Gln679Glu | |
| NM_012224.4:c.2167C>G | NP_036356.1:p.Gln723Glu |