ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00180186 (NFE)
Genomes Max Group AF
0.00141309 (NFE)
Exomes Max Group AF
0.00181228 (NFE)
Revel Score:
ENST00000291532
0.561
ENST00000433957
0.561
ENST00000398405
0.561
ENST00000380399
0.561
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.42375787C>T , CM000683.2:g.42375787C>T | GRCh38 |
| NC_000021.8:g.43795896C>T , CM000683.1:g.43795896C>T | GRCh37 |
| NC_000021.7:g.42668965C>T | NCBI36 |
| NG_011629.1:g.25305G>A | |
| NG_011629.2:g.25305G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000433957.7:c.1276G>A | ENSP00000411013.3:p.Ala426Thr | |
| ENST00000644384.2:c.1273G>A MANE Select | ENSP00000494414.1:p.Ala425Thr | |
| ENST00000652415.1:c.1273G>A | ENSP00000498756.1:p.Ala425Thr | |
| ENST00000291532.7:c.1276G>A | ENSP00000291532.3:p.Ala426Thr | |
| ENST00000398405.5:c.1267G>A | ENSP00000381442.1:p.Ala423Thr | |
| ENST00000433957.6:c.1273G>A | ENSP00000411013.2:p.Ala425Thr | |
| ENST00000474596.5:n.1144G>A | ||
| ENST00000476848.5:n.2008G>A | ||
| ENST00000482761.1:n.1563G>A | ||
| NM_001256317.1:c.1273G>A | NP_001243246.1:p.Ala425Thr | |
| NM_024022.2:c.1276G>A | NP_076927.1:p.Ala426Thr | |
| NM_032404.2:c.895G>A | NP_115780.1:p.Ala299Thr | |
| NR_046020.1:n.2232G>A | ||
| NM_001256317.2:c.1273G>A | NP_001243246.1:p.Ala425Thr | |
| NM_024022.3:c.1276G>A | NP_076927.1:p.Ala426Thr | |
| NM_001256317.3:c.1273G>A MANE Select | NP_001243246.1:p.Ala425Thr | |
| NM_024022.4:c.1276G>A | NP_076927.1:p.Ala426Thr | |
| NM_032404.3:c.895G>A | NP_115780.1:p.Ala299Thr |