Linked Data
ClinVar Variation Id:
1045170
ClinVar RCV Id:
RCV001349536
dbSNP Id:
rs146234738
ExAC:
1:100327162 C / G
gnomAD v2:
1-100327162-C-G
gnomAD v4:
1-99861606-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.99861606C>G , CM000663.2:g.99861606C>G | GRCh38 |
| NC_000001.10:g.100327162C>G , CM000663.1:g.100327162C>G | GRCh37 |
| NC_000001.9:g.100099750C>G | NCBI36 |
| NG_012865.1:g.16523C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361915.8:c.186C>G MANE Select | ENSP00000355106.3:p.Phe62Leu | |
| ENST00000637337.1:n.397C>G | ||
| ENST00000294724.8:c.186C>G | ENSP00000294724.4:p.Phe62Leu | |
| ENST00000361302.7:c.138C>G | ENSP00000354971.3:p.Phe46Leu | |
| ENST00000361522.4:c.135C>G | ENSP00000354635.4:p.Phe45Leu | |
| ENST00000361915.7:c.186C>G | ENSP00000355106.3:p.Phe62Leu | |
| ENST00000370161.6:c.138C>G | ENSP00000359180.2:p.Phe46Leu | |
| ENST00000370163.7:c.186C>G | ENSP00000359182.3:p.Phe62Leu | |
| ENST00000370165.7:c.186C>G | ENSP00000359184.3:p.Phe62Leu | |
| NM_000028.2:c.186C>G | NP_000019.2:p.Phe62Leu | |
| NM_000642.2:c.186C>G | NP_000633.2:p.Phe62Leu | |
| NM_000643.2:c.186C>G | NP_000634.2:p.Phe62Leu | |
| NM_000644.2:c.186C>G | NP_000635.2:p.Phe62Leu | |
| NM_000645.2:c.135C>G | NP_000636.2:p.Phe45Leu | |
| NM_000646.2:c.138C>G | NP_000637.2:p.Phe46Leu | |
| XM_005270557.1:c.186C>G | XP_005270614.1:p.Phe62Leu | |
| XM_005270557.2:c.186C>G | XP_005270614.1:p.Phe62Leu | |
| NM_000642.3:c.186C>G MANE Select | NP_000633.2:p.Phe62Leu |