Linked Data
dbSNP Id:
rs372817942
gnomAD v2:
11-6638037-G-C
gnomAD v3:
11-6616806-G-C
gnomAD v4:
11-6616806-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616806G>C , CM000673.2:g.6616806G>C | GRCh38 |
| NC_000011.9:g.6638037G>C , CM000673.1:g.6638037G>C | GRCh37 |
| NC_000011.8:g.6594613G>C | NCBI36 |
| NG_008653.1:g.7656C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.627C>G | ENSP00000507321.1:p.Phe209Leu | |
| ENST00000299427.12:c.741C>G MANE Select | ENSP00000299427.6:p.Phe247Leu | |
| ENST00000436873.7:c.312+495C>G | ||
| ENST00000524788.2:n.1900C>G | ||
| ENST00000524903.2:n.2016C>G | ||
| ENST00000528807.2:n.397C>G | ||
| ENST00000530040.2:n.480-303C>G | ||
| ENST00000533371.6:c.12C>G | ENSP00000437066.1:p.Phe4Leu | |
| ENST00000642892.1:c.12C>G | ENSP00000494165.1:p.Phe4Leu | |
| ENST00000643439.1:c.*481C>G | ENSP00000495849.1:n.*481C>G | |
| ENST00000643479.1:n.770C>G | ||
| ENST00000643516.1:c.396-303C>G | ||
| ENST00000644151.1:n.2180C>G | ||
| ENST00000644218.1:c.741C>G | ENSP00000493574.1:p.Phe247Leu | |
| ENST00000644683.1:c.*194C>G | ENSP00000494085.1:n.*194C>G | |
| ENST00000644810.1:c.462C>G | ENSP00000495895.1:p.Phe154Leu | |
| ENST00000644831.1:n.917C>G | ||
| ENST00000644933.1:c.12C>G | ENSP00000496133.1:p.Phe4Leu | |
| ENST00000645020.1:n.2031C>G | ||
| ENST00000645285.1:c.12C>G | ENSP00000495058.1:p.Phe4Leu | |
| ENST00000645331.1:n.1107C>G | ||
| ENST00000645620.1:c.12C>G | ENSP00000493657.1:p.Phe4Leu | |
| ENST00000646777.1:n.917C>G | ||
| ENST00000647016.1:n.1221C>G | ||
| ENST00000647152.1:c.12C>G | ENSP00000495893.1:p.Phe4Leu | |
| ENST00000647209.1:c.*610C>G | ENSP00000495558.1:n.*610C>G | |
| ENST00000647346.1:n.1761C>G | ||
| ENST00000299427.10:c.741C>G | ENSP00000299427.6:p.Phe247Leu | |
| ENST00000436873.6:c.451-303C>G | ENSP00000398136.2:n.451-303C>G | |
| ENST00000524788.1:n.441C>G | ||
| ENST00000528807.1:n.291C>G | ||
| ENST00000533371.5:c.12C>G | ENSP00000437066.1:p.Phe4Leu | |
| ENST00000611494.4:c.741C>G | ENSP00000484546.1:p.Phe247Leu | |
| NM_000391.3:c.741C>G | NP_000382.3:p.Phe247Leu | |
| NM_000391.4:c.741C>G MANE Select | NP_000382.3:p.Phe247Leu |