Revel Score:
ENST00000324071 (MANE Select)
0.070
ENST00000330446
0.070
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00404013 (AFR)
Genomes Max Group AF
0.00412041 (AFR)
Exomes Max Group AF
0.00359277 (AFR)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41004303T>C , CM000681.2:g.41004303T>C | GRCh38 |
| NC_000019.9:g.41510208T>C , CM000681.1:g.41510208T>C | GRCh37 |
| NC_000019.8:g.46202048T>C | NCBI36 |
| NG_007929.1:g.18005T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000324071.10:c.341T>C MANE Select | ENSP00000324648.2:p.Ile114Thr | |
| ENST00000598834.2:c.243T>C | ||
| ENST00000324071.8:c.341T>C | ENSP00000324648.2:p.Ile114Thr | |
| ENST00000593831.1:c.113T>C | ENSP00000470582.1:p.Ile38Thr | |
| ENST00000598834.1:n.243T>C | ||
| NM_000767.4:c.341T>C | NP_000758.1:p.Ile114Thr | |
| XM_005258569.3:c.341T>C | XP_005258626.1:p.Ile114Thr | |
| XM_006723050.2:c.341T>C | XP_006723113.1:p.Ile114Thr | |
| XM_011526546.1:c.341T>C | XP_011524848.1:p.Ile114Thr | |
| XM_011526547.1:c.341T>C | XP_011524849.1:p.Ile114Thr | |
| XM_011526548.1:c.341T>C | XP_011524850.1:p.Ile114Thr | |
| XM_011526550.1:c.221T>C | XP_011524852.1:p.Ile74Thr | |
| NM_000767.5:c.341T>C MANE Select | NP_000758.1:p.Ile114Thr |