COSMIC:
COSM3756813 (not active)
Revel Score:
ENST00000324071 (MANE Select)
0.066
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.3835113 (SAS)
Genomes Max Group AF
0.365331 (AFR)
Exomes Max Group AF
0.38397794 (SAS)
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41006936G>T , CM000681.2:g.41006936G>T | GRCh38 |
| NC_000019.9:g.41512841G>T , CM000681.1:g.41512841G>T | GRCh37 |
| NC_000019.8:g.46204681G>T | NCBI36 |
| NG_007929.1:g.20638G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.516G>T MANE Select | ENSP00000324648.2:p.Gln172His | |
| ENST00000598834.2:c.418G>T | ||
| ENST00000324071.8:c.516G>T | ENSP00000324648.2:p.Gln172His | |
| ENST00000593831.1:c.256+2490G>T | ENSP00000470582.1:n.256+2490G>T | |
| ENST00000594187.1:n.100G>T | ||
| ENST00000598834.1:n.418G>T | ||
| NM_000767.4:c.516G>T | NP_000758.1:p.Gln172His | |
| XM_005258569.3:c.516G>T | XP_005258626.1:p.Gln172His | |
| XM_006723050.2:c.516G>T | XP_006723113.1:p.Gln172His | |
| XM_011526546.1:c.516G>T | XP_011524848.1:p.Gln172His | |
| XM_011526547.1:c.516G>T | XP_011524849.1:p.Gln172His | |
| XM_011526548.1:c.484+2490G>T | XP_011524850.1:n.484+2490G>T | |
| XM_011526549.1:c.-75-1G>T | XP_011524851.1:n.-75-1G>T | |
| XM_011526550.1:c.364+2490G>T | XP_011524852.1:n.364+2490G>T | |
| NM_000767.5:c.516G>T MANE Select | NP_000758.1:p.Gln172His |