Revel Score:
ENST00000553106 (MANE Select)
0.853
ENST00000307000
0.853
ENST00000551337
0.853
ENST00000546844
0.853
gnomAD v2:
gnomAD v3:
gnomAD v4:
Joint Max Group AF
0.00078245 (AMR)
Genomes Max Group AF
0.00113652 (AMR)
Exomes Max Group AF
0.00055886 (AMR)
ClinVar Allele:
ClinVar Variation:
dbSNP:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102912794A>C , CM000674.2:g.102912794A>C | GRCh38 |
| NC_000012.11:g.103306572A>C , CM000674.1:g.103306572A>C | GRCh37 |
| NC_000012.10:g.101830702A>C | NCBI36 |
| NG_008690.1:g.9809T>G | |
| NG_008690.2:g.50617T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.165T>G MANE Select | ENSP00000448059.1:p.Phe55Leu | |
| ENST00000307000.7:c.150T>G | ENSP00000303500.2:p.Phe50Leu | |
| ENST00000546844.1:c.165T>G | ENSP00000446658.1:p.Phe55Leu | |
| ENST00000548677.2:n.252T>G | ||
| ENST00000548928.1:n.87T>G | ||
| ENST00000549111.5:n.261T>G | ||
| ENST00000550978.6:c.149T>G | ||
| ENST00000551337.5:c.165T>G | ENSP00000447620.1:p.Phe55Leu | |
| ENST00000551988.5:n.254T>G | ||
| ENST00000553106.5:c.165T>G | ENSP00000448059.1:p.Phe55Leu | |
| ENST00000635500.1:n.133T>G | ||
| NM_000277.1:c.165T>G | NP_000268.1:p.Phe55Leu | |
| XM_011538422.1:c.165T>G | XP_011536724.1:p.Phe55Leu | |
| NM_000277.2:c.165T>G | NP_000268.1:p.Phe55Leu | |
| NM_001354304.1:c.165T>G | NP_001341233.1:p.Phe55Leu | |
| XM_017019370.2:c.165T>G | XP_016874859.1:p.Phe55Leu | |
| NM_000277.3:c.165T>G MANE Select | NP_000268.1:p.Phe55Leu | |
| NM_001354304.2:c.165T>G | NP_001341233.1:p.Phe55Leu |