Revel Score:
ENST00000373588 (MANE Select)
0.229
ENST00000455734
0.229
gnomAD v2:
gnomAD v4:
Joint Max Group AF
0.00000124 (NFE)
Exomes Max Group AF
0.00000132 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.124500592C>T , CM000671.2:g.124500592C>T | GRCh38 |
| NC_000009.11:g.127262871C>T , CM000671.1:g.127262871C>T | GRCh37 |
| NC_000009.10:g.126302692C>T | NCBI36 |
| NG_008176.1:g.11829G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373588.9:c.368G>A MANE Select | ENSP00000362690.4:p.Gly123Glu | |
| ENST00000373587.3:c.40-320G>A | ENSP00000362689.3:n.40-320G>A | |
| ENST00000373588.8:c.368G>A | ENSP00000362690.4:p.Gly123Glu | |
| ENST00000455734.1:c.368G>A | ENSP00000393245.1:p.Gly123Glu | |
| ENST00000620110.4:c.368G>A | ENSP00000483309.1:p.Gly123Glu | |
| NM_004959.4:c.368G>A | NP_004950.2:p.Gly123Glu | |
| XM_005251871.2:c.368G>A | XP_005251928.1:p.Gly123Glu | |
| XM_005251872.3:c.107G>A | XP_005251929.1:p.Gly36Glu | |
| XM_011518455.1:c.368G>A | XP_011516757.1:p.Gly123Glu | |
| XM_011518456.1:c.368G>A | XP_011516758.1:p.Gly123Glu | |
| NM_004959.5:c.368G>A MANE Select | NP_004950.2:p.Gly123Glu |