This is a test version of the ClinGen Allele Registry and hosts obsolete or unreal identifiers. Please visit here for the production version.
dbSNP:
gnomAD v4:
Joint Max Group AF
0.00002977 (EAS)
Exomes Max Group AF
0.00003348 (EAS)
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.102835287A>G , CM000672.2:g.102835287A>G | GRCh38 |
| NC_000010.10:g.104595044A>G , CM000672.1:g.104595044A>G | GRCh37 |
| NC_000010.9:g.104585034A>G | NCBI36 |
| NG_007955.1:g.7247T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369887.4:c.403T>C MANE Select | ENSP00000358903.3:p.Phe135Leu | |
| ENST00000638190.1:c.403T>C | ENSP00000492539.1:p.Phe135Leu | |
| ENST00000638272.1:c.297+1778T>C | ENSP00000491508.1:n.297+1778T>C | |
| ENST00000638971.1:c.403T>C | ENSP00000492313.1:p.Phe135Leu | |
| ENST00000639393.1:c.403T>C | ENSP00000492651.1:p.Phe135Leu | |
| ENST00000640633.1:n.165T>C | ||
| ENST00000369887.3:c.403T>C | ENSP00000358903.3:p.Phe135Leu | |
| ENST00000489268.1:n.657T>C | ||
| NM_000102.3:c.403T>C | NP_000093.1:p.Phe135Leu | |
| NM_000102.4:c.403T>C MANE Select | NP_000093.1:p.Phe135Leu |