Linked Data
ClinVar Variation Id:
1520773
ClinVar RCV Id:
RCV002046150
dbSNP Id:
rs750147146
ExAC:
2:73799549 T / A
gnomAD v2:
2-73799549-T-A
gnomAD v3:
2-73572422-T-A
gnomAD v4:
2-73572422-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73572422T>A , CM000664.2:g.73572422T>A | GRCh38 |
| NC_000002.11:g.73799549T>A , CM000664.1:g.73799549T>A | GRCh37 |
| NC_000002.10:g.73653057T>A | NCBI36 |
| NG_011690.1:g.191670T>A , LRG_741:g.191670T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.10164T>A | ENSP00000507671.1:p.Phe3388Leu | |
| ENST00000682801.1:c.10164T>A | ENSP00000507862.1:p.Phe3388Leu | |
| ENST00000682859.1:c.10164T>A | ENSP00000508222.1:p.Phe3388Leu | |
| ENST00000683791.1:c.3250T>A | ||
| ENST00000684460.1:c.7445T>A | ||
| ENST00000684548.1:c.10164T>A | ENSP00000507421.1:p.Phe3388Leu | |
| ENST00000684590.1:c.4611T>A | ENSP00000507376.1:p.Phe1537Leu | |
| ENST00000684656.1:c.7490T>A | ||
| ENST00000613296.6:c.10545T>A MANE Select | ENSP00000482968.1:p.Phe3515Leu | |
| ENST00000651057.1:c.699T>A | ENSP00000498504.1:p.Phe233Leu | |
| ENST00000651434.1:c.1901T>A | ||
| ENST00000652487.1:c.1642T>A | ||
| ENST00000423048.5:c.4036T>A | ENSP00000399833.1:n.4036T>A | |
| ENST00000484298.5:c.10419T>A | ENSP00000478155.1:p.Phe3473Leu | |
| ENST00000613296.4:c.10545T>A | ENSP00000482968.1:p.Phe3515Leu | |
| ENST00000614410.4:c.10545T>A | ENSP00000479094.1:p.Phe3515Leu | |
| ENST00000620466.4:n.4348T>A | ||
| NM_015120.4:c.10548T>A , LRG_741t1:c.10548T>A | NP_055935.4:p.Phe3516Leu | |
| NM_001378454.1:c.10545T>A MANE Select | NP_001365383.1:p.Phe3515Leu |