Revel Score:
ENST00000512123 (MANE Select)
0.606
ENST00000264895
0.315
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00041001 (EAS)
Genomes Max Group AF
0.00104636 (EAS)
Exomes Max Group AF
0.00025565 (EAS)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.78526584A>G , CM000666.2:g.78526584A>G | GRCh38 |
| NC_000004.11:g.79447738A>G , CM000666.1:g.79447738A>G | GRCh37 |
| NC_000004.10:g.79666762A>G | NCBI36 |
| NG_015812.1:g.474015A>G | |
| NG_015812.2:g.474015A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000512123.4:c.10852A>G MANE Select | ENSP00000422834.2:p.Thr3618Ala | |
| ENST00000512123.3:c.10852A>G | ENSP00000422834.2:p.Thr3618Ala | |
| NM_025074.6:c.10852A>G | NP_079350.5:p.Thr3618Ala | |
| XM_006714314.1:c.10846A>G | XP_006714377.1:p.Thr3616Ala | |
| XM_006714316.1:c.10624A>G | XP_006714379.1:p.Thr3542Ala | |
| XM_011532270.1:c.8551A>G | XP_011530572.1:p.Thr2851Ala | |
| XM_011532271.1:c.5740A>G | XP_011530573.1:p.Thr1914Ala | |
| XM_006714316.3:c.10624A>G | XP_006714379.1:p.Thr3542Ala | |
| NM_025074.7:c.10852A>G MANE Select | NP_079350.5:p.Thr3618Ala |