Revel Score:
ENST00000262304 (MANE Select)
0.058
ENST00000423118
0.058
ENST00000306101
0.058
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00008566 (NFE)
Genomes Max Group AF
0.00012502 (NFE)
Exomes Max Group AF
0.00007958 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2102857G>C , CM000678.2:g.2102857G>C | GRCh38 |
| NC_000016.9:g.2152858G>C , CM000678.1:g.2152858G>C | GRCh37 |
| NC_000016.8:g.2092859G>C | NCBI36 |
| NG_008617.1:g.40364C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262304.9:c.8905C>G MANE Select | ENSP00000262304.4:p.Gln2969Glu | |
| ENST00000262304.8:c.8905C>G | ENSP00000262304.4:p.Gln2969Glu | |
| ENST00000415938.7:n.1984C>G | ||
| ENST00000423118.5:c.8905C>G | ENSP00000399501.1:p.Gln2969Glu | |
| ENST00000471603.6:n.549C>G | ||
| ENST00000474088.1:n.321C>G | ||
| ENST00000475889.1:n.214C>G | ||
| ENST00000480227.5:n.642C>G | ||
| ENST00000483731.5:n.2791C>G | ||
| ENST00000486339.6:n.3041C>G | ||
| ENST00000487932.5:c.3467C>G | ENSP00000457132.1:n.3467C>G | |
| ENST00000496574.6:n.3141C>G | ||
| ENST00000562297.5:n.638C>G | ||
| ENST00000567946.1:c.507C>G | ||
| NM_000296.3:c.8905C>G | NP_000287.3:p.Gln2969Glu | |
| NM_001009944.2:c.8905C>G | NP_001009944.2:p.Gln2969Glu | |
| XM_005255370.2:c.5860C>G | XP_005255427.1:p.Gln1954Glu | |
| XM_011522525.1:c.8983C>G | XP_011520827.1:p.Gln2995Glu | |
| XM_011522526.1:c.8983C>G | XP_011520828.1:p.Gln2995Glu | |
| XM_011522527.1:c.8983C>G | XP_011520829.1:p.Gln2995Glu | |
| XM_011522528.1:c.8959C>G | XP_011520830.1:p.Gln2987Glu | |
| XM_011522529.1:c.8959C>G | XP_011520831.1:p.Gln2987Glu | |
| XM_011522530.1:c.8929C>G | XP_011520832.1:p.Gln2977Glu | |
| XM_011522531.1:c.8911C>G | XP_011520833.1:p.Gln2971Glu | |
| XM_011522532.1:c.8857C>G | XP_011520834.1:p.Gln2953Glu | |
| XM_011522533.1:c.8776C>G | XP_011520835.1:p.Gln2926Glu | |
| XM_011522534.1:c.8719C>G | XP_011520836.1:p.Gln2907Glu | |
| XM_011522535.1:c.6805C>G | XP_011520837.1:p.Gln2269Glu | |
| XM_011522536.1:c.8983C>G | XP_011520838.1:p.Gln2995Glu | |
| XM_011522537.1:c.5983C>G | XP_011520839.1:p.Gln1995Glu | |
| XR_932867.1:n.8998C>G | ||
| XR_932868.1:n.8998C>G | ||
| XR_932869.1:n.8998C>G | ||
| XR_932870.1:n.8998C>G | ||
| XM_005255370.3:c.5860C>G | XP_005255427.1:p.Gln1954Glu | |
| XM_011522528.3:c.8959C>G | XP_011520830.1:p.Gln2987Glu | |
| XM_011522529.2:c.8959C>G | XP_011520831.1:p.Gln2987Glu | |
| XM_011522537.2:c.5983C>G | XP_011520839.1:p.Gln1995Glu | |
| XM_024450298.1:c.9025C>G | XP_024306066.1:p.Gln3009Glu | |
| XM_024450299.1:c.8953C>G | XP_024306067.1:p.Gln2985Glu | |
| XM_024450300.1:c.8815C>G | XP_024306068.1:p.Gln2939Glu | |
| XM_024450301.1:c.6901C>G | XP_024306069.1:p.Gln2301Glu | |
| NM_000296.4:c.8905C>G | NP_000287.4:p.Gln2969Glu | |
| NM_001009944.3:c.8905C>G MANE Select | NP_001009944.3:p.Gln2969Glu |