Revel Score:
ENST00000337818
0.612
ENST00000397231
0.612
ENST00000216181 (MANE Select)
0.612
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.36289096C>A , CM000684.2:g.36289096C>A | GRCh38 |
| NC_000022.10:g.36685142C>A , CM000684.1:g.36685142C>A | GRCh37 |
| NC_000022.9:g.35015088C>A | NCBI36 |
| NG_011884.2:g.103923G>T , LRG_567:g.103923G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685801.1:c.4609G>T | ENSP00000510688.1:p.Val1537Leu | |
| ENST00000691109.1:n.4841G>T | ||
| ENST00000216181.11:c.4546G>T MANE Select | ENSP00000216181.6:p.Val1516Leu | |
| ENST00000216181.9:c.4546G>T | ENSP00000216181.5:p.Val1516Leu | |
| NM_002473.5:c.4546G>T , LRG_567t1:c.4546G>T | NP_002464.1:p.Val1516Leu | |
| XM_011530197.1:c.4546G>T | XP_011528499.1:p.Val1516Leu | |
| XM_011530197.2:c.4546G>T | XP_011528499.1:p.Val1516Leu | |
| XM_017028803.1:c.4546G>T | XP_016884292.1:p.Val1516Leu | |
| XM_017028804.1:c.4546G>T | XP_016884293.1:p.Val1516Leu | |
| XM_017028805.1:c.4546G>T | XP_016884294.1:p.Val1516Leu | |
| XM_017028806.1:c.4546G>T | XP_016884295.1:p.Val1516Leu | |
| NM_002473.6:c.4546G>T MANE Select | NP_002464.1:p.Val1516Leu |