Revel Score:
ENST00000368444 (MANE Select)
0.242
ENST00000356535
0.242
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.03525758 (EAS)
Genomes Max Group AF
0.03176222 (EAS)
Exomes Max Group AF
0.03525954 (EAS)
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.122780399C>T , CM000668.2:g.122780399C>T | GRCh38 |
| NC_000006.11:g.123101544C>T , CM000668.1:g.123101544C>T | GRCh37 |
| NC_000006.10:g.123143243C>T | NCBI36 |
| NG_050619.1:g.36199C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368444.8:c.182C>T MANE Select | ENSP00000357429.3:p.Thr61Met | |
| ENST00000356535.4:c.182C>T | ENSP00000348931.4:p.Thr61Met | |
| ENST00000368444.7:c.182C>T | ENSP00000357429.3:p.Thr61Met | |
| NM_001446.3:c.182C>T | NP_001437.1:p.Thr61Met | |
| XM_005266858.2:c.182C>T | XP_005266915.1:p.Thr61Met | |
| NM_001319039.1:c.182C>T | NP_001305968.1:p.Thr61Met | |
| NM_001319041.1:c.182C>T | NP_001305970.1:p.Thr61Met | |
| NM_001319042.1:c.170C>T | NP_001305971.1:p.Thr57Met | |
| NM_001446.4:c.182C>T | NP_001437.1:p.Thr61Met | |
| NM_001446.5:c.182C>T MANE Select | NP_001437.1:p.Thr61Met | |
| NM_001319041.2:c.182C>T | NP_001305970.1:p.Thr61Met | |
| NM_001319039.2:c.182C>T | NP_001305968.1:p.Thr61Met | |
| NM_001319042.2:c.170C>T | NP_001305971.1:p.Thr57Met |