Linked Data
ClinVar Variation Id:
874475
dbSNP Id:
rs371562367
ExAC:
1:227076692 C / G
gnomAD v2:
1-227076692-C-G
gnomAD v4:
1-226888991-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.226888991C>G , CM000663.2:g.226888991C>G | GRCh38 |
| NC_000001.10:g.227076692C>G , CM000663.1:g.227076692C>G | GRCh37 |
| NC_000001.9:g.225143315C>G | NCBI36 |
| NG_007381.1:g.23420C>G | |
| NG_007381.2:g.23808C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366779.6:c.729C>G | ENSP00000355741.2:p.Phe243Leu | |
| ENST00000366782.6:c.729C>G | ENSP00000355746.2:p.Phe243Leu | |
| ENST00000366783.8:c.729C>G MANE Select | ENSP00000355747.3:p.Phe243Leu | |
| ENST00000524196.6:c.729C>G | ENSP00000429036.2:p.Phe243Leu | |
| ENST00000626989.3:c.729C>G | ENSP00000486498.2:p.Phe243Leu | |
| ENST00000676467.1:c.*559C>G | ENSP00000504294.1:n.*559C>G | |
| ENST00000676747.1:c.729C>G | ENSP00000503244.1:p.Phe243Leu | |
| ENST00000676840.1:c.729C>G | ENSP00000504318.1:p.Phe243Leu | |
| ENST00000676884.1:c.729C>G | ENSP00000503200.1:p.Phe243Leu | |
| ENST00000676888.1:c.729C>G | ENSP00000504483.1:p.Phe243Leu | |
| ENST00000676907.1:c.*308C>G | ENSP00000504410.1:n.*308C>G | |
| ENST00000676945.1:c.729C>G | ENSP00000504433.1:p.Phe243Leu | |
| ENST00000677065.1:n.1290C>G | ||
| ENST00000677414.1:c.729C>G | ENSP00000503116.1:p.Phe243Leu | |
| ENST00000677529.1:n.1167C>G | ||
| ENST00000677596.1:c.*636C>G | ENSP00000503618.1:n.*636C>G | |
| ENST00000677599.1:c.729C>G | ENSP00000503673.1:p.Phe243Leu | |
| ENST00000677748.1:n.1167C>G | ||
| ENST00000677880.1:c.297C>G | ENSP00000503121.1:p.Phe99Leu | |
| ENST00000678021.1:c.*352C>G | ENSP00000504674.1:n.*352C>G | |
| ENST00000678233.1:c.729C>G | ENSP00000504728.1:p.Phe243Leu | |
| ENST00000678320.1:c.729C>G | ENSP00000503680.1:p.Phe243Leu | |
| ENST00000678655.1:c.729C>G | ENSP00000504230.1:p.Phe243Leu | |
| ENST00000678706.1:c.729C>G | ENSP00000503659.1:p.Phe243Leu | |
| ENST00000678776.1:c.*559C>G | ENSP00000504624.1:n.*559C>G | |
| ENST00000678784.1:c.729C>G | ENSP00000504652.1:p.Phe243Leu | |
| ENST00000678820.1:c.729C>G | ENSP00000504138.1:p.Phe243Leu | |
| ENST00000678835.1:c.729C>G | ENSP00000504343.1:p.Phe243Leu | |
| ENST00000679088.1:c.729C>G | ENSP00000504727.1:p.Phe243Leu | |
| ENST00000679098.1:c.729C>G | ENSP00000504303.1:p.Phe243Leu | |
| ENST00000366782.5:c.828C>G | ENSP00000355746.1:p.Phe276Leu | |
| ENST00000366783.7:c.729C>G | ENSP00000355747.3:p.Phe243Leu | |
| ENST00000422240.6:c.729C>G | ENSP00000403737.2:p.Phe243Leu | |
| ENST00000460775.5:c.210C>G | ENSP00000427912.1:p.Phe70Leu | |
| ENST00000472139.2:c.297C>G | ENSP00000427806.1:p.Phe99Leu | |
| ENST00000626989.2:c.828C>G | ENSP00000486498.1:p.Phe276Leu | |
| NM_000447.2:c.729C>G | NP_000438.2:p.Phe243Leu | |
| NM_012486.2:c.729C>G | NP_036618.2:p.Phe243Leu | |
| XM_005273199.2:c.729C>G | XP_005273256.1:p.Phe243Leu | |
| XM_011544236.1:c.297C>G | XP_011542538.1:p.Phe99Leu | |
| XR_949149.1:n.1156C>G | ||
| XR_949150.1:n.1156C>G | ||
| XM_005273199.4:c.729C>G | XP_005273256.1:p.Phe243Leu | |
| XM_017001835.1:c.729C>G | XP_016857324.1:p.Phe243Leu | |
| XM_017001836.1:c.729C>G | XP_016857325.1:p.Phe243Leu | |
| XR_001737316.2:n.1134C>G | ||
| XR_001737317.2:n.1134C>G | ||
| XR_001737318.2:n.1134C>G | ||
| XR_001737319.1:n.1477C>G | ||
| XR_001737320.1:n.1477C>G | ||
| XR_001737321.1:n.969C>G | ||
| XR_949149.2:n.1134C>G | ||
| XR_949150.3:n.1134C>G | ||
| NM_000447.3:c.729C>G MANE Select | NP_000438.2:p.Phe243Leu | |
| NM_012486.3:c.729C>G | NP_036618.2:p.Phe243Leu |