Revel Score:
ENST00000354760 (MANE Select)
0.873
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.26625528T>C , CM000684.2:g.26625528T>C | GRCh38 |
| NC_000022.10:g.27021492T>C , CM000684.1:g.27021492T>C | GRCh37 |
| NC_000022.9:g.25351492T>C | NCBI36 |
| NG_009825.1:g.8565T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000354760.4:c.206T>C MANE Select | ENSP00000346805.3:p.Leu69Pro | |
| ENST00000354760.3:c.206T>C | ENSP00000346805.3:p.Leu69Pro | |
| ENST00000466315.1:n.103T>C | ||
| NM_001886.2:c.206T>C | NP_001877.1:p.Leu69Pro | |
| XM_006724140.2:c.221T>C | XP_006724203.1:p.Leu74Pro | |
| XM_011529898.1:c.320T>C | XP_011528200.1:p.Leu107Pro | |
| XM_006724140.3:c.221T>C | XP_006724203.1:p.Leu74Pro | |
| XM_017028598.1:c.239T>C | XP_016884087.1:p.Leu80Pro | |
| NM_001886.3:c.206T>C MANE Select | NP_001877.1:p.Leu69Pro |