Revel Score:
ENST00000259396 (MANE Select)
0.004
ENST00000538816
0.004
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.114323246G>T , CM000671.2:g.114323246G>T | GRCh38 |
| NC_000009.11:g.117085526G>T , CM000671.1:g.117085526G>T | GRCh37 |
| NC_000009.10:g.116125347G>T | NCBI36 |
| NG_012108.1:g.5224G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259396.9:c.113G>T MANE Select | ENSP00000259396.8:p.Arg38Leu | |
| ENST00000259396.8:c.113G>T | ENSP00000259396.8:p.Arg38Leu | |
| NM_000607.2:c.113G>T | NP_000598.2:p.Arg38Leu | |
| NM_000607.3:c.113G>T | NP_000598.2:p.Arg38Leu | |
| NM_000607.4:c.113G>T MANE Select | NP_000598.2:p.Arg38Leu |