Revel Score:
ENST00000283684
0.927
ENST00000536015
0.927
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Genomes Max Group AF
0.00001171 (NFE)
Exomes Max Group AF
3e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.57695188C>A , CM000680.2:g.57695188C>A | GRCh38 |
| NC_000018.9:g.55362420C>A , CM000680.1:g.55362420C>A | GRCh37 |
| NC_000018.8:g.53513418C>A | NCBI36 |
| NG_007148.2:g.112908G>T | |
| NG_007148.3:g.113635G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000642462.1:c.923G>T | ENSP00000494712.1:p.Gly308Val | |
| ENST00000648039.1:c.923G>T | ENSP00000497863.1:p.Gly308Val | |
| ENST00000648467.1:c.756G>T | ||
| ENST00000648908.2:c.923G>T MANE Select | ENSP00000497896.1:p.Gly308Val | |
| ENST00000283684.8:c.923G>T | ENSP00000283684.4:p.Gly308Val | |
| ENST00000536015.5:c.923G>T | ENSP00000445359.1:p.Gly308Val | |
| NM_005603.4:c.923G>T | NP_005594.1:p.Gly308Val | |
| XM_006722481.2:c.923G>T | XP_006722544.1:p.Gly308Val | |
| XM_011526020.1:c.923G>T | XP_011524322.1:p.Gly308Val | |
| XM_011526021.1:c.923G>T | XP_011524323.1:p.Gly308Val | |
| XM_011526022.1:c.923G>T | XP_011524324.1:p.Gly308Val | |
| XM_011526023.1:c.809G>T | XP_011524325.1:p.Gly270Val | |
| XM_011526024.1:c.203G>T | XP_011524326.1:p.Gly68Val | |
| XR_935525.1:n.32-757C>A | ||
| XR_935526.1:n.32-757C>A | ||
| NM_005603.6:c.923G>T | NP_005594.2:p.Gly308Val | |
| XM_006722481.4:c.923G>T | XP_006722544.1:p.Gly308Val | |
| XM_011526023.3:c.809G>T | XP_011524325.1:p.Gly270Val | |
| NM_001374385.1:c.923G>T MANE Select | NP_001361314.1:p.Gly308Val | |
| NM_001374386.1:c.773G>T | NP_001361315.1:p.Gly258Val |