Revel Score:
ENST00000305249 (MANE Select)
0.282
ENST00000409848
0.282
gnomAD v3:
gnomAD v4:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.75198602A>T , CM000664.2:g.75198602A>T | GRCh38 |
| NC_000002.11:g.75425728A>T , CM000664.1:g.75425728A>T | GRCh37 |
| NC_000002.10:g.75279236A>T | NCBI36 |
| NG_029522.1:g.5918T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000305249.10:c.333T>A MANE Select | ENSP00000303522.4:p.Phe111Leu | |
| ENST00000305249.9:c.333T>A | ENSP00000303522.4:p.Phe111Leu | |
| ENST00000409848.3:c.333T>A | ENSP00000386448.3:p.Phe111Leu | |
| NM_001058.3:c.333T>A | NP_001049.1:p.Phe111Leu | |
| NM_015727.2:c.333T>A | NP_056542.1:p.Phe111Leu | |
| XR_940257.1:n.108+52142A>T | ||
| XR_940257.2:n.109+52142A>T | ||
| NM_001058.4:c.333T>A MANE Select | NP_001049.1:p.Phe111Leu | |
| NM_015727.3:c.333T>A | NP_056542.1:p.Phe111Leu | |
| NR_168009.1:n.372+42287A>T | ||
| NR_168010.1:n.366+42287A>T |