Linked Data
ClinVar Variation Id:
12026
ClinVar RCV Id:
RCV000012806
dbSNP Id:
rs121964953
gnomAD v4:
4-158672458-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158672458T>C , CM000666.2:g.158672458T>C | GRCh38 |
| NC_000004.11:g.159593610T>C , CM000666.1:g.159593610T>C | GRCh37 |
| NC_000004.10:g.159813060T>C | NCBI36 |
| NG_007078.2:g.5117T>C | |
| NG_033150.1:g.4798A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000436096.3:n.253T>C | ||
| ENST00000507475.6:n.146T>C | ||
| ENST00000512251.6:n.491T>C | ||
| ENST00000682345.1:c.2T>C | ENSP00000508122.1:p.Met1Thr | |
| ENST00000682409.1:n.111T>C | ||
| ENST00000682456.1:c.2T>C | ENSP00000508240.1:p.Met1Thr | |
| ENST00000682601.1:n.193T>C | ||
| ENST00000682734.1:c.-682T>C | ENSP00000507860.1:n.-682T>C | |
| ENST00000683004.1:c.2T>C | ENSP00000506936.1:p.Met1Thr | |
| ENST00000683079.1:c.2T>C | ENSP00000507296.1:p.Met1Thr | |
| ENST00000683081.1:c.2T>C | ENSP00000507722.1:p.Met1Thr | |
| ENST00000683305.1:c.-85T>C | ENSP00000508043.1:n.-85T>C | |
| ENST00000683448.1:c.-123T>C | ENSP00000506931.1:n.-123T>C | |
| ENST00000683478.1:c.2T>C | ENSP00000507793.1:p.Met1Thr | |
| ENST00000683483.1:c.2T>C | ENSP00000507719.1:p.Met1Thr | |
| ENST00000683750.1:n.125T>C | ||
| ENST00000683751.1:c.-123T>C | ENSP00000506944.1:n.-123T>C | |
| ENST00000684036.1:c.-412T>C | ENSP00000507276.1:n.-412T>C | |
| ENST00000684129.1:c.-727T>C | ENSP00000507174.1:n.-727T>C | |
| ENST00000684296.1:c.2T>C | ENSP00000507740.1:p.Met1Thr | |
| ENST00000684505.1:c.2T>C | ENSP00000508237.1:p.Met1Thr | |
| ENST00000684552.1:c.2T>C | ENSP00000506899.1:p.Met1Thr | |
| ENST00000684611.1:n.143T>C | ||
| ENST00000684622.1:c.2T>C | ENSP00000507546.1:p.Met1Thr | |
| ENST00000684627.1:c.-570T>C | ENSP00000507471.1:n.-570T>C | |
| ENST00000684641.1:c.2T>C | ENSP00000507642.1:p.Met1Thr | |
| ENST00000684675.1:c.2T>C | ENSP00000506934.1:p.Met1Thr | |
| ENST00000511912.6:c.2T>C MANE Select | ENSP00000426638.1:p.Met1Thr | |
| ENST00000307738.5:c.2T>C | ENSP00000303552.5:p.Met1Thr | |
| ENST00000436096.2:n.143T>C | ||
| ENST00000506422.1:n.54T>C | ||
| ENST00000507475.5:c.-123T>C | ENSP00000422735.1:n.-123T>C | |
| ENST00000510353.5:n.143T>C | ||
| ENST00000511912.5:c.2T>C | ENSP00000426638.1:p.Met1Thr | |
| ENST00000512251.5:c.2T>C | ENSP00000425661.1:p.Met1Thr | |
| NM_001281737.1:c.2T>C | NP_001268666.1:p.Met1Thr | |
| NM_004453.3:c.2T>C | NP_004444.2:p.Met1Thr | |
| NM_004453.4:c.2T>C MANE Select | NP_004444.2:p.Met1Thr | |
| NM_001281737.2:c.2T>C | NP_001268666.1:p.Met1Thr |