Revel Score:
ENST00000360971
0.854
gnomAD v3:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.131860504C>T , CM000668.2:g.131860504C>T | GRCh38 |
| NC_000006.11:g.132181644C>T , CM000668.1:g.132181644C>T | GRCh37 |
| NC_000006.10:g.132223337C>T | NCBI36 |
| NG_008206.1:g.57489C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647893.1:c.913C>T MANE Select | ENSP00000498074.1:p.Pro305Ser | |
| ENST00000650147.1:c.530C>T | ||
| ENST00000650437.1:c.404C>T | ||
| ENST00000360971.6:c.913C>T | ENSP00000354238.2:p.Pro305Ser | |
| ENST00000513998.5:c.913C>T | ENSP00000422424.1:p.Pro305Ser | |
| NM_006208.2:c.913C>T | NP_006199.2:p.Pro305Ser | |
| NM_006208.3:c.913C>T MANE Select | NP_006199.2:p.Pro305Ser |