Revel Score:
ENST00000295754 (MANE Select)
0.404
ENST00000359013
0.404
ENST00000439925
0.404
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001778 (EAS)
Exomes Max Group AF
0.00000838 (EAS)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672249C>G , CM000665.2:g.30672249C>G | GRCh38 |
| NC_000003.11:g.30713741C>G , CM000665.1:g.30713741C>G | GRCh37 |
| NC_000003.10:g.30688745C>G | NCBI36 |
| NG_007490.1:g.70748C>G , LRG_779:g.70748C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.1066C>G MANE Select | ENSP00000295754.5:p.Arg356Gly | |
| ENST00000672866.1:n.2662C>G | ||
| ENST00000295754.9:c.1066C>G | ENSP00000295754.5:p.Arg356Gly | |
| ENST00000359013.4:c.1141C>G | ENSP00000351905.4:p.Arg381Gly | |
| NM_001024847.2:c.1141C>G , LRG_779t1:c.1141C>G | NP_001020018.1:p.Arg381Gly | |
| NM_003242.5:c.1066C>G | NP_003233.4:p.Arg356Gly | |
| XM_011534043.1:c.1093C>G | XP_011532345.1:p.Arg365Gly | |
| XM_011534044.1:c.1018C>G | XP_011532346.1:p.Arg340Gly | |
| XM_011534045.1:c.961C>G | XP_011532347.1:p.Arg321Gly | |
| XM_011534043.2:c.1093C>G | XP_011532345.1:p.Arg365Gly | |
| XM_011534045.3:c.961C>G | XP_011532347.1:p.Arg321Gly | |
| XM_017007106.1:c.961C>G | XP_016862595.1:p.Arg321Gly | |
| NM_003242.6:c.1066C>G MANE Select | NP_003233.4:p.Arg356Gly |