COSMIC:
COSM454232 (not active)
COSM1489129 (not active)
Revel Score:
ENST00000276833
0.059
ENST00000301305 (MANE Select)
0.059
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.58710649 (MID)
Genomes Max Group AF
0.51502578 (NFE)
Exomes Max Group AF
0.58745593 (MID)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.144415944C>T , CM000670.2:g.144415944C>T | GRCh38 |
| NC_000008.10:g.145641328C>T , CM000670.1:g.145641328C>T | GRCh37 |
| NC_000008.9:g.145612136C>T | NCBI36 |
| NG_012234.2:g.5947G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301305.8:c.340G>A MANE Select | ENSP00000301305.4:p.Ala114Thr | |
| ENST00000276833.9:c.265G>A | ENSP00000276833.5:p.Ala89Thr | |
| ENST00000301305.7:c.340G>A | ENSP00000301305.3:p.Ala114Thr | |
| ENST00000526658.1:c.193-525G>A | ENSP00000434512.1:n.193-525G>A | |
| NM_017767.2:c.265G>A | NP_060237.2:p.Ala89Thr | |
| NM_130849.3:c.340G>A | NP_570901.2:p.Ala114Thr | |
| XM_006716599.1:c.340G>A | XP_006716662.1:p.Ala114Thr | |
| XM_011517153.1:c.193-525G>A | XP_011515455.1:n.193-525G>A | |
| XM_024447188.1:c.193-525G>A | XP_024302956.1:n.193-525G>A | |
| XM_024447189.1:c.193-525G>A | XP_024302957.1:n.193-525G>A | |
| NM_001374839.1:c.193-525G>A | NP_001361768.1:n.193-525G>A | |
| NM_017767.3:c.265G>A | NP_060237.3:p.Ala89Thr | |
| NM_130849.4:c.340G>A MANE Select | NP_570901.3:p.Ala114Thr |