Revel Score:
ENST00000371996 (MANE Select)
0.212
ENST00000371994
0.212
gnomAD v4:
Joint Max Group AF
0.00000183 (NFE)
Exomes Max Group AF
0.00000194 (NFE)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87505037C>T , CM000672.2:g.87505037C>T | GRCh38 |
| NC_000010.10:g.89264794C>T , CM000672.1:g.89264794C>T | GRCh37 |
| NC_000010.9:g.89254774C>T | NCBI36 |
| NG_013023.1:g.5572C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371996.9:c.122C>T MANE Select | ENSP00000361064.4:p.Ser41Leu | |
| ENST00000371994.8:c.122C>T | ENSP00000361062.4:p.Ser41Leu | |
| ENST00000371996.8:c.122C>T | ENSP00000361064.4:p.Ser41Leu | |
| NM_001178117.1:c.122C>T | NP_001171588.1:p.Ser41Leu | |
| NM_004897.4:c.122C>T | NP_004888.2:p.Ser41Leu | |
| XM_006718078.2:c.122C>T | XP_006718141.1:p.Ser41Leu | |
| XR_945884.1:n.2246C>T | ||
| XM_006718078.3:c.122C>T | XP_006718141.1:p.Ser41Leu | |
| XM_011540379.3:c.-592C>T | XP_011538681.1:n.-592C>T | |
| XM_017016965.2:c.122C>T | XP_016872454.1:p.Ser41Leu | |
| NM_004897.5:c.122C>T MANE Select | NP_004888.2:p.Ser41Leu | |
| NM_001178117.2:c.122C>T | NP_001171588.1:p.Ser41Leu |