Revel Score:
ENST00000299314 (MANE Select)
0.847
ENST00000549940
0.847
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004101 (NFE)
Genomes Max Group AF
0.00000488 (NFE)
Exomes Max Group AF
0.00004178 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.101768082C>A , CM000674.2:g.101768082C>A | GRCh38 |
| NC_000012.11:g.102161860C>A , CM000674.1:g.102161860C>A | GRCh37 |
| NC_000012.10:g.100685991C>A | NCBI36 |
| NG_021243.1:g.67786G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299314.12:c.1363G>T MANE Select | ENSP00000299314.7:p.Ala455Ser | |
| ENST00000299314.11:c.1363G>T | ENSP00000299314.7:p.Ala455Ser | |
| ENST00000549940.5:c.1363G>T | ENSP00000449150.1:p.Ala455Ser | |
| ENST00000552009.1:n.22G>T | ||
| NM_024312.4:c.1363G>T | NP_077288.2:p.Ala455Ser | |
| XM_006719593.2:c.1363G>T | XP_006719656.1:p.Ala455Ser | |
| XM_011538731.1:c.1282G>T | XP_011537033.1:p.Ala428Ser | |
| XM_006719593.3:c.1363G>T | XP_006719656.1:p.Ala455Ser | |
| XM_011538731.2:c.1282G>T | XP_011537033.1:p.Ala428Ser | |
| XM_017019961.1:c.1147G>T | XP_016875450.1:p.Ala383Ser | |
| XM_017019962.2:c.136G>T | XP_016875451.1:p.Ala46Ser | |
| NM_024312.5:c.1363G>T MANE Select | NP_077288.2:p.Ala455Ser |