Linked Data
ClinVar Variation Id:
2101967
ClinVar RCV Id:
RCV003026272
dbSNP Id:
rs1385851381
gnomAD v2:
20-44685189-C-A
gnomAD v4:
20-46056550-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.46056550C>A , CM000682.2:g.46056550C>A | GRCh38 |
| NC_000020.10:g.44685189C>A , CM000682.1:g.44685189C>A | GRCh37 |
| NC_000020.9:g.44118596C>A | NCBI36 |
| NG_046341.1:g.39861C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000243964.7:c.3096C>A MANE Select | ENSP00000243964.4:p.Phe1032Leu | |
| ENST00000243964.6:c.3096C>A | ENSP00000243964.3:p.Phe1032Leu | |
| ENST00000454036.6:c.3165C>A | ENSP00000387694.1:p.Phe1055Leu | |
| ENST00000616201.4:c.1298-2106C>A | ENSP00000484585.1:n.1298-2106C>A | |
| ENST00000616202.4:c.613-1931C>A | ENSP00000478369.1:n.613-1931C>A | |
| ENST00000616933.4:c.*2414C>A | ENSP00000477569.1:n.*2414C>A | |
| ENST00000626937.2:c.510-3049C>A | ENSP00000485953.1:n.510-3049C>A | |
| NM_001134771.1:c.3165C>A | NP_001128243.1:p.Phe1055Leu | |
| NM_020708.4:c.3096C>A | NP_065759.1:p.Phe1032Leu | |
| XM_017027981.1:c.3165C>A | XP_016883470.1:p.Phe1055Leu | |
| NM_001134771.2:c.3165C>A | NP_001128243.1:p.Phe1055Leu | |
| NM_020708.5:c.3096C>A MANE Select | NP_065759.1:p.Phe1032Leu |