Linked Data
ClinVar Variation Id:
2271649
ClinVar RCV Id:
RCV004129822
dbSNP Id:
rs1651762894
gnomAD v3:
1-67240234-G-C
gnomAD v4:
1-67240234-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.67240234G>C , CM000663.2:g.67240234G>C | GRCh38 |
| NC_000001.10:g.67705917G>C , CM000663.1:g.67705917G>C | GRCh37 |
| NC_000001.9:g.67478505G>C | NCBI36 |
| NG_011498.1:g.78749G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697148.1:c.977G>C | ENSP00000513137.1:n.977G>C | |
| ENST00000697149.1:c.940G>C | ENSP00000513138.1:n.940G>C | |
| ENST00000697150.1:c.1045+3432G>C | ENSP00000513139.1:n.1045+3432G>C | |
| ENST00000697151.1:c.1045+3432G>C | ENSP00000513140.1:n.1045+3432G>C | |
| ENST00000697152.1:c.799-15603G>C | ENSP00000513141.1:n.799-15603G>C | |
| ENST00000697153.1:c.795-15603G>C | ENSP00000513142.1:n.795-15603G>C | |
| ENST00000697154.1:c.956-18244G>C | ENSP00000513143.1:n.956-18244G>C | |
| ENST00000697155.1:c.649-18244G>C | ENSP00000513144.1:n.649-18244G>C | |
| ENST00000697156.1:c.1101G>C | ENSP00000513145.1:p.Leu367Phe | |
| ENST00000697157.1:c.955G>C | ENSP00000513146.1:n.955G>C | |
| ENST00000697158.1:c.944G>C | ENSP00000513147.1:n.944G>C | |
| ENST00000697159.1:c.794G>C | ENSP00000513148.1:n.794G>C | |
| ENST00000697160.1:c.956-15603G>C | ENSP00000513149.1:n.956-15603G>C | |
| ENST00000697161.1:c.637G>C | ENSP00000513150.1:n.637G>C | |
| ENST00000697162.1:c.1030G>C | ENSP00000513151.1:n.1030G>C | |
| ENST00000697163.1:c.1101G>C | ENSP00000513152.1:p.Leu367Phe | |
| ENST00000697164.1:c.1011G>C | ENSP00000513153.1:p.Leu337Phe | |
| ENST00000697165.1:c.798G>C | ENSP00000513154.1:p.Leu266Phe | |
| ENST00000697223.1:c.850G>C | ENSP00000513190.1:n.850G>C | |
| ENST00000697224.1:c.884+3432G>C | ENSP00000513191.1:n.884+3432G>C | |
| ENST00000697225.1:c.704G>C | ENSP00000513192.1:n.704G>C | |
| ENST00000697226.1:c.738+3432G>C | ENSP00000513193.1:n.738+3432G>C | |
| ENST00000697227.1:c.937G>C | ENSP00000513194.1:n.937G>C | |
| ENST00000697228.1:c.793G>C | ENSP00000513195.1:n.793G>C | |
| ENST00000697229.1:c.885-15603G>C | ENSP00000513196.1:n.885-15603G>C | |
| ENST00000697230.1:c.1011G>C | ENSP00000513197.1:p.Leu337Phe | |
| ENST00000697231.1:c.1006G>C | ENSP00000513198.1:n.1006G>C | |
| ENST00000697232.1:c.1030G>C | ENSP00000513199.1:n.1030G>C | |
| ENST00000347310.10:c.1101G>C MANE Select | ENSP00000321345.5:p.Leu367Phe | |
| ENST00000637002.1:c.492G>C | ENSP00000490340.1:p.Leu164Phe | |
| ENST00000347310.9:c.1101G>C | ENSP00000321345.5:p.Leu367Phe | |
| ENST00000395227.2:c.-58-15603G>C | ENSP00000378652.2:n.-58-15603G>C | |
| ENST00000425614.3:c.336G>C | ENSP00000387640.2:p.Leu112Phe | |
| ENST00000473881.2:c.191-15603G>C | ENSP00000486667.1:n.191-15603G>C | |
| NM_144701.2:c.1101G>C | NP_653302.2:p.Leu367Phe | |
| XM_005270516.2:c.339G>C | XP_005270573.1:p.Leu113Phe | |
| XM_011540789.1:c.1191G>C | XP_011539091.1:p.Leu397Phe | |
| XM_011540790.1:c.1101G>C | XP_011539092.1:p.Leu367Phe | |
| XM_011540791.1:c.1101G>C | XP_011539093.1:p.Leu367Phe | |
| XM_011540790.3:c.1101G>C | XP_011539092.1:p.Leu367Phe | |
| XM_011540791.3:c.1101G>C | XP_011539093.1:p.Leu367Phe | |
| XR_001736993.1:n.1228+3432G>C | ||
| NM_144701.3:c.1101G>C MANE Select | NP_653302.2:p.Leu367Phe |