Revel Score:
ENST00000299314 (MANE Select)
0.943
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000763 (NFE)
Exomes Max Group AF
0.00000731 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101766189C>T , CM000674.2:g.101766189C>T | GRCh38 |
| NC_000012.11:g.102159967C>T , CM000674.1:g.102159967C>T | GRCh37 |
| NC_000012.10:g.100684098C>T | NCBI36 |
| NG_021243.1:g.69679G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1514G>A MANE Select | ENSP00000299314.7:p.Cys505Tyr | |
| ENST00000299314.11:c.1514G>A | ENSP00000299314.7:p.Cys505Tyr | |
| ENST00000552009.1:n.173G>A | ||
| NM_024312.4:c.1514G>A | NP_077288.2:p.Cys505Tyr | |
| XM_006719593.2:c.1514G>A | XP_006719656.1:p.Cys505Tyr | |
| XM_011538731.1:c.1433G>A | XP_011537033.1:p.Cys478Tyr | |
| XM_006719593.3:c.1514G>A | XP_006719656.1:p.Cys505Tyr | |
| XM_011538731.2:c.1433G>A | XP_011537033.1:p.Cys478Tyr | |
| XM_017019961.1:c.1298G>A | XP_016875450.1:p.Cys433Tyr | |
| XM_017019962.2:c.287G>A | XP_016875451.1:p.Cys96Tyr | |
| NM_024312.5:c.1514G>A MANE Select | NP_077288.2:p.Cys505Tyr |