Revel Score:
ENST00000531645
0.380
ENST00000528176
0.380
ENST00000307998 (MANE Select)
0.380
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00034074 (NFE)
Genomes Max Group AF
0.00036755 (NFE)
Exomes Max Group AF
0.00033197 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65868335T>C , CM000673.2:g.65868335T>C | GRCh38 |
| NC_000011.9:g.65635806T>C , CM000673.1:g.65635806T>C | GRCh37 |
| NC_000011.8:g.65392382T>C | NCBI36 |
| NG_012304.2:g.9600A>G | |
| NG_053116.1:g.13274T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307998.11:c.934A>G MANE Select | ENSP00000309953.6:p.Thr312Ala | |
| ENST00000307998.10:c.934A>G | ENSP00000309953.6:p.Thr312Ala | |
| ENST00000525392.1:n.95A>G | ||
| ENST00000526628.5:n.1500A>G | ||
| ENST00000528176.5:c.934A>G | ENSP00000434151.1:p.Thr312Ala | |
| ENST00000528409.1:n.178A>G | ||
| ENST00000530806.5:c.-65A>G | ENSP00000436526.1:n.-65A>G | |
| ENST00000531005.5:n.1928A>G | ||
| ENST00000531645.5:c.82A>G | ENSP00000436521.1:p.Thr28Ala | |
| ENST00000531972.5:c.934A>G | ENSP00000435295.1:p.Thr312Ala | |
| ENST00000532084.5:n.360A>G | ||
| NM_016938.4:c.934A>G | NP_058634.4:p.Thr312Ala | |
| NR_037718.1:n.1193A>G | ||
| NM_016938.5:c.934A>G MANE Select | NP_058634.4:p.Thr312Ala | |
| NR_037718.2:n.1059A>G |