Revel Score:
ENST00000310128 (MANE Select)
0.447
ENST00000525550
0.447
ENST00000532569
0.447
ENST00000531854
0.447
ENST00000529425
0.447
ENST00000526855
0.447
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00142674 (EAS)
Genomes Max Group AF
0.00076765 (EAS)
Exomes Max Group AF
0.0014308 (EAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.74457554T>C , CM000673.2:g.74457554T>C | GRCh38 |
| NC_000011.9:g.74168599T>C , CM000673.1:g.74168599T>C | GRCh37 |
| NC_000011.8:g.73846247T>C | NCBI36 |
| NG_011833.1:g.15002A>G , LRG_439:g.15002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000310128.9:c.10A>G MANE Select | ENSP00000310557.4:p.Thr4Ala | |
| ENST00000310128.8:c.10A>G | ENSP00000310557.4:p.Thr4Ala | |
| ENST00000525550.1:c.10A>G | ENSP00000433633.1:p.Thr4Ala | |
| ENST00000526855.1:c.10A>G | ENSP00000435539.1:p.Thr4Ala | |
| ENST00000529425.5:c.10A>G | ENSP00000434890.1:p.Thr4Ala | |
| ENST00000531854.5:c.10A>G | ENSP00000433697.1:p.Thr4Ala | |
| ENST00000532569.5:c.10A>G | ENSP00000431739.1:p.Thr4Ala | |
| NM_005472.4:c.10A>G , LRG_439t1:c.10A>G | NP_005463.1:p.Thr4Ala | |
| XM_011544713.1:c.142A>G | XP_011543015.1:p.Thr48Ala | |
| XM_011544713.2:c.142A>G | XP_011543015.1:p.Thr48Ala | |
| XM_017017047.1:c.10A>G | XP_016872536.1:p.Thr4Ala | |
| XM_017017048.1:c.10A>G | XP_016872537.1:p.Thr4Ala | |
| XM_017017049.1:c.10A>G | XP_016872538.1:p.Thr4Ala | |
| XM_017017051.2:c.10A>G | XP_016872540.1:p.Thr4Ala | |
| XM_017017052.1:c.10A>G | XP_016872541.1:p.Thr4Ala | |
| NM_005472.5:c.10A>G MANE Select | NP_005463.1:p.Thr4Ala |