Linked Data
ClinVar Variation Id:
1514091
ClinVar RCV Id:
RCV002018564
dbSNP Id:
rs2147093380
gnomAD v4:
22-29674909-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.29674909C>T , CM000684.2:g.29674909C>T | GRCh38 |
| NC_000022.10:g.30070898C>T , CM000684.1:g.30070898C>T | GRCh37 |
| NC_000022.9:g.28400898C>T | NCBI36 |
| NG_009057.1:g.76354C>T , LRG_511:g.76354C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361166.10:c.1279C>T | ENSP00000354529.6:p.Leu427Phe | |
| ENST00000673312.2:c.*908C>T | ENSP00000500186.2:n.*908C>T | |
| ENST00000338641.10:c.1414C>T MANE Select | ENSP00000344666.5:p.Leu472Phe | |
| ENST00000361166.9:c.832C>T | ENSP00000354529.5:p.Leu278Phe | |
| ENST00000672461.1:c.1414C>T | ENSP00000500919.1:p.Leu472Phe | |
| ENST00000672805.1:c.*1296C>T | ENSP00000500295.1:n.*1296C>T | |
| ENST00000672896.1:c.1414C>T | ENSP00000500117.1:p.Leu472Phe | |
| ENST00000673312.1:c.1433C>T | ENSP00000500186.1:n.1433C>T | |
| ENST00000334961.11:c.1165C>T | ENSP00000335652.7:p.Leu389Phe | |
| ENST00000338641.8:c.1414C>T | ENSP00000344666.4:p.Leu472Phe | |
| ENST00000353887.8:c.1165C>T | ENSP00000340626.4:p.Leu389Phe | |
| ENST00000361166.8:c.1414C>T | ENSP00000354529.4:p.Leu472Phe | |
| ENST00000361452.8:c.1291C>T | ENSP00000354897.4:p.Leu431Phe | |
| ENST00000361676.8:c.1288C>T | ENSP00000355183.4:p.Leu430Phe | |
| ENST00000397789.3:c.1414C>T | ENSP00000380891.3:p.Leu472Phe | |
| ENST00000403435.5:c.1327C>T | ENSP00000384029.1:p.Leu443Phe | |
| ENST00000403999.7:c.1414C>T | ENSP00000384797.3:p.Leu472Phe | |
| ENST00000413209.6:c.448-19843C>T | ENSP00000409921.2:n.448-19843C>T | |
| ENST00000432151.5:c.596C>T | ENSP00000395885.1:p.Ala199Val | |
| NM_000268.3:c.1414C>T , LRG_511t1:c.1414C>T | NP_000259.1:p.Leu472Phe | |
| NM_016418.5:c.1414C>T , LRG_511t2:c.1414C>T | NP_057502.2:p.Leu472Phe | |
| NM_181825.2:c.1414C>T | NP_861546.1:p.Leu472Phe | |
| NM_181828.2:c.1288C>T | NP_861966.1:p.Leu430Phe | |
| NM_181829.2:c.1291C>T | NP_861967.1:p.Leu431Phe | |
| NM_181830.2:c.1165C>T | NP_861968.1:p.Leu389Phe | |
| NM_181831.2:c.1165C>T | NP_861969.1:p.Leu389Phe | |
| NM_181832.2:c.1414C>T | NP_861970.1:p.Leu472Phe | |
| NM_181833.2:c.448-19843C>T | NP_861971.1:n.448-19843C>T | |
| NR_156186.1:n.1973C>T | ||
| XM_017028809.2:c.1300C>T | XP_016884298.1:p.Leu434Phe | |
| XM_017028810.1:c.1300C>T | XP_016884299.1:p.Leu434Phe | |
| NM_000268.4:c.1414C>T MANE Select | NP_000259.1:p.Leu472Phe | |
| NM_181825.3:c.1414C>T | NP_861546.1:p.Leu472Phe | |
| NM_181828.3:c.1288C>T | NP_861966.1:p.Leu430Phe | |
| NM_181829.3:c.1291C>T | NP_861967.1:p.Leu431Phe | |
| NM_181830.3:c.1165C>T | NP_861968.1:p.Leu389Phe | |
| NM_181831.3:c.1165C>T | NP_861969.1:p.Leu389Phe | |
| NM_181832.3:c.1414C>T | NP_861970.1:p.Leu472Phe | |
| NR_156186.2:n.1896C>T | ||
| NM_181833.3:c.448-19843C>T | NP_861971.1:n.448-19843C>T |