ClinVar RCV:
ClinVar Variation:
dbSNP:
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00000292 (NFE)
Exomes Max Group AF
0.00000309 (NFE)
Revel Score:
ENST00000409155 (MANE Select)
0.808
ENST00000277315
0.808
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.113389088C>T , CM000671.2:g.113389088C>T | GRCh38 |
| NC_000009.11:g.116151368C>T , CM000671.1:g.116151368C>T | GRCh37 |
| NC_000009.10:g.115191189C>T | NCBI36 |
| NG_008716.1:g.17251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000409155.8:c.820G>A MANE Select | ENSP00000386284.3:p.Ala274Thr | |
| ENST00000409155.7:c.820G>A | ENSP00000386284.3:p.Ala274Thr | |
| ENST00000482847.5:n.1093G>A | ||
| NM_000031.5:c.820G>A | NP_000022.3:p.Ala274Thr | |
| XM_005251799.1:c.907G>A | XP_005251856.1:p.Ala303Thr | |
| XM_011518363.1:c.946G>A | XP_011516665.1:p.Ala316Thr | |
| XM_011518364.1:c.847G>A | XP_011516666.1:p.Ala283Thr | |
| NM_001003945.2:c.907G>A | NP_001003945.1:p.Ala303Thr | |
| NM_001317745.1:c.796G>A | NP_001304674.1:p.Ala266Thr | |
| XM_011518364.2:c.847G>A | XP_011516666.1:p.Ala283Thr | |
| XM_024447449.1:c.907G>A | XP_024303217.1:p.Ala303Thr | |
| NM_000031.6:c.820G>A MANE Select | NP_000022.3:p.Ala274Thr | |
| NM_001003945.3:c.907G>A | NP_001003945.1:p.Ala303Thr | |
| NM_001317745.2:c.796G>A | NP_001304674.1:p.Ala266Thr |