Revel Score:
ENST00000310123 (MANE Select)
0.090
ENST00000437421
0.090
ENST00000392225
0.050
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00004514 (NFE)
Exomes Max Group AF
0.00004703 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35126853C>T , CM000681.2:g.35126853C>T | GRCh38 |
| NC_000019.9:g.35617757C>T , CM000681.1:g.35617757C>T | GRCh37 |
| NC_000019.8:g.40309597C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310123.8:c.793G>A MANE Select | ENSP00000312273.3:p.Ala265Thr | |
| ENST00000310123.7:c.793G>A | ENSP00000312273.3:p.Ala265Thr | |
| ENST00000392225.7:c.793G>A | ENSP00000376059.3:p.Gly265Ser | |
| ENST00000493050.5:n.852G>A | ||
| ENST00000587780.5:c.528G>A | ||
| ENST00000591840.5:n.420-1987G>A | ||
| ENST00000593248.5:n.924G>A | ||
| NM_139284.2:c.793G>A | NP_644813.1:p.Ala265Thr | |
| XM_011526594.1:c.793G>A | XP_011524896.1:p.Ala265Thr | |
| XM_011526595.1:c.277G>A | XP_011524897.1:p.Ala93Thr | |
| XM_011526595.2:c.277G>A | XP_011524897.1:p.Ala93Thr | |
| XM_017026428.1:c.277G>A | XP_016881917.1:p.Ala93Thr | |
| XM_017026429.1:c.277G>A | XP_016881918.1:p.Ala93Thr | |
| XM_017026430.2:c.277G>A | XP_016881919.1:p.Ala93Thr | |
| NM_139284.3:c.793G>A MANE Select | NP_644813.1:p.Ala265Thr |