Revel Score:
ENST00000553106 (MANE Select)
0.911
ENST00000307000
0.911
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
8.4e-7 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102846939C>A , CM000674.2:g.102846939C>A | GRCh38 |
| NC_000012.11:g.103240717C>A , CM000674.1:g.103240717C>A | GRCh37 |
| NC_000012.10:g.101764847C>A | NCBI36 |
| NG_008690.1:g.75664G>T | |
| NG_008690.2:g.116472G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.925G>T MANE Select | ENSP00000448059.1:p.Ala309Ser | |
| ENST00000307000.7:c.910G>T | ENSP00000303500.2:p.Ala304Ser | |
| ENST00000549247.6:n.684G>T | ||
| ENST00000551114.2:n.587G>T | ||
| ENST00000553106.5:c.925G>T | ENSP00000448059.1:p.Ala309Ser | |
| ENST00000635477.1:c.74-2508G>T | ||
| ENST00000635528.1:n.440G>T | ||
| NM_000277.1:c.925G>T | NP_000268.1:p.Ala309Ser | |
| XM_011538422.1:c.913-2508G>T | XP_011536724.1:n.913-2508G>T | |
| NM_000277.2:c.925G>T | NP_000268.1:p.Ala309Ser | |
| NM_001354304.1:c.925G>T | NP_001341233.1:p.Ala309Ser | |
| NM_000277.3:c.925G>T MANE Select | NP_000268.1:p.Ala309Ser | |
| NM_001354304.2:c.925G>T | NP_001341233.1:p.Ala309Ser |