Revel Score:
ENST00000294304 (MANE Select)
0.974
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004183 (NFE)
Genomes Max Group AF
0.00001918 (AFR)
Exomes Max Group AF
0.00004265 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68436969T>G , CM000673.2:g.68436969T>G | GRCh38 |
| NC_000011.9:g.68204437T>G , CM000673.1:g.68204437T>G | GRCh37 |
| NC_000011.8:g.67961013T>G | NCBI36 |
| NG_015835.1:g.129330T>G | |
| NG_015835.2:g.129330T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000294304.12:c.4081T>G MANE Select | ENSP00000294304.6:p.Cys1361Gly | |
| ENST00000294304.11:c.4081T>G | ENSP00000294304.6:p.Cys1361Gly | |
| ENST00000529993.5:c.*2687T>G | ENSP00000436652.1:n.*2687T>G | |
| NM_001291902.1:c.2338T>G | NP_001278831.1:p.Cys780Gly | |
| NM_002335.3:c.4081T>G | NP_002326.2:p.Cys1361Gly | |
| XM_005273994.2:c.4081T>G | XP_005274051.1:p.Cys1361Gly | |
| XM_011545029.1:c.4108T>G | XP_011543331.1:p.Cys1370Gly | |
| XM_011545030.1:c.4108T>G | XP_011543332.1:p.Cys1370Gly | |
| XM_011545031.1:c.4108T>G | XP_011543333.1:p.Cys1370Gly | |
| XR_949925.1:n.4123T>G | ||
| XR_949926.1:n.4123T>G | ||
| XM_017017735.1:c.2338T>G | XP_016873224.1:p.Cys780Gly | |
| XM_017017736.1:c.1621T>G | XP_016873225.1:p.Cys541Gly | |
| XR_949925.2:n.4123T>G | ||
| XR_949926.2:n.4123T>G | ||
| NM_002335.4:c.4081T>G MANE Select | NP_002326.2:p.Cys1361Gly | |
| NM_001291902.2:c.2338T>G | NP_001278831.1:p.Cys780Gly |