ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
ENST00000444970
0.937
ENST00000372348
0.937
ENST00000318560 (MANE Select)
0.937
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.130872153T>G , CM000671.2:g.130872153T>G | GRCh38 |
| NC_000009.11:g.133747540T>G , CM000671.1:g.133747540T>G | GRCh37 |
| NC_000009.10:g.132737361T>G | NCBI36 |
| NG_012034.1:g.163273T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372348.9:c.904T>G | ENSP00000361423.2:p.Phe302Val | |
| ENST00000318560.6:c.847T>G MANE Select | ENSP00000323315.5:p.Phe283Val | |
| ENST00000372348.7:c.904T>G | ENSP00000361423.2:p.Phe302Val | |
| ENST00000318560.5:c.847T>G | ENSP00000323315.5:p.Phe283Val | |
| ENST00000372348.6:c.904T>G | ENSP00000361423.2:p.Phe302Val | |
| NM_005157.5:c.847T>G | NP_005148.2:p.Phe283Val | |
| NM_007313.2:c.904T>G | NP_009297.2:p.Phe302Val | |
| NM_005157.6:c.847T>G MANE Select | NP_005148.2:p.Phe283Val | |
| NM_007313.3:c.904T>G | NP_009297.2:p.Phe302Val |