Revel Score:
ENST00000261537 (MANE Select)
0.860
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00017169 (SAS)
Exomes Max Group AF
0.0001725 (SAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.21765807C>G , CM000680.2:g.21765807C>G | GRCh38 |
| NC_000018.9:g.19345768C>G , CM000680.1:g.19345768C>G | GRCh37 |
| NC_000018.8:g.17599766C>G | NCBI36 |
| NG_033272.2:g.65851C>G , LRG_759:g.65851C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261537.7:c.265C>G MANE Select | ENSP00000261537.6:p.Arg89Gly | |
| ENST00000261537.6:c.265C>G | ENSP00000261537.6:p.Arg89Gly | |
| ENST00000578646.5:n.203C>G | ||
| NM_020774.3:c.265C>G , LRG_759t1:c.265C>G | NP_065825.1:p.Arg89Gly | |
| XR_935234.1:n.1056C>G | ||
| XR_935235.1:n.1056C>G | ||
| XM_017025874.1:c.265C>G | XP_016881363.1:p.Arg89Gly | |
| XM_017025875.1:c.265C>G | XP_016881364.1:p.Arg89Gly | |
| NM_020774.4:c.265C>G MANE Select | NP_065825.1:p.Arg89Gly |