Revel Score:
ENST00000262631 (MANE Select)
0.786
ENST00000415950
0.786
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00001803 (NFE)
Genomes Max Group AF
0.00001972 (NFE)
Exomes Max Group AF
0.00001627 (NFE)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.35032569A>G , CM000681.2:g.35032569A>G | GRCh38 |
| NC_000019.9:g.35523473A>G , CM000681.1:g.35523473A>G | GRCh37 |
| NC_000019.8:g.40215313A>G | NCBI36 |
| NG_013359.1:g.6882A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000415950.5:c.82A>G | ENSP00000396915.2:p.Thr28Ala | |
| ENST00000262631.11:c.82A>G MANE Select | ENSP00000262631.3:p.Thr28Ala | |
| ENST00000415950.4:c.82A>G | ENSP00000396915.2:p.Thr28Ala | |
| ENST00000596348.2:c.-18A>G | ENSP00000492247.1:n.-18A>G | |
| ENST00000638536.1:c.82A>G | ENSP00000492022.1:p.Thr28Ala | |
| ENST00000640135.1:c.-18A>G | ENSP00000492655.1:n.-18A>G | |
| ENST00000675741.1:c.-18A>G | ENSP00000502395.1:n.-18A>G | |
| ENST00000676410.1:c.-18A>G | ENSP00000502717.1:n.-18A>G | |
| ENST00000262631.9:c.82A>G | ENSP00000262631.3:p.Thr28Ala | |
| ENST00000415950.3:c.82A>G | ENSP00000396915.2:p.Thr28Ala | |
| ENST00000595652.5:c.82A>G | ENSP00000468848.1:p.Thr28Ala | |
| ENST00000596348.1:n.91A>G | ||
| NM_001037.4:c.82A>G | NP_001028.1:p.Thr28Ala | |
| NM_199037.3:c.82A>G | NP_950238.1:p.Thr28Ala | |
| XM_005259144.1:c.-18A>G | XP_005259201.1:n.-18A>G | |
| NM_001321605.1:c.-18A>G | NP_001308534.1:n.-18A>G | |
| NM_199037.4:c.82A>G | NP_950238.1:p.Thr28Ala | |
| NM_001037.5:c.82A>G MANE Select | NP_001028.1:p.Thr28Ala | |
| NM_001321605.2:c.-18A>G | NP_001308534.1:n.-18A>G | |
| NM_199037.5:c.82A>G | NP_950238.1:p.Thr28Ala |