Linked Data
ClinVar Variation Id:
529451
ClinVar RCV Id:
RCV000634895
dbSNP Id:
rs917285990
gnomAD v3:
4-158706851-G-T
gnomAD v4:
4-158706851-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158706851G>T , CM000666.2:g.158706851G>T | GRCh38 |
| NC_000004.11:g.159628003G>T , CM000666.1:g.159628003G>T | GRCh37 |
| NC_000004.10:g.159847453G>T | NCBI36 |
| NG_007078.2:g.39510G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.3226+1G>T | ||
| ENST00000682178.1:n.2722+1G>T | ||
| ENST00000682345.1:c.*1390+1G>T | ENSP00000508122.1:n.*1390+1G>T | |
| ENST00000682452.1:n.2021+1G>T | ||
| ENST00000682456.1:c.1549+1G>T | ENSP00000508240.1:n.1549+1G>T | |
| ENST00000682566.1:n.2473+1G>T | ||
| ENST00000682613.1:n.2002+1G>T | ||
| ENST00000682734.1:c.517+1G>T | ENSP00000507860.1:n.517+1G>T | |
| ENST00000682820.1:n.1727+1G>T | ||
| ENST00000683004.1:c.*1383+1G>T | ENSP00000506936.1:n.*1383+1G>T | |
| ENST00000683079.1:c.*1115+1G>T | ENSP00000507296.1:n.*1115+1G>T | |
| ENST00000683081.1:c.*1527+1G>T | ENSP00000507722.1:n.*1527+1G>T | |
| ENST00000683181.1:n.969+1G>T | ||
| ENST00000683209.1:n.4016+1G>T | ||
| ENST00000683305.1:c.1507+1G>T | ENSP00000508043.1:n.1507+1G>T | |
| ENST00000683448.1:c.*610+1G>T | ENSP00000506931.1:n.*610+1G>T | |
| ENST00000683478.1:c.*1041+1G>T | ENSP00000507793.1:n.*1041+1G>T | |
| ENST00000683483.1:c.1546+1G>T | ENSP00000507719.1:n.1546+1G>T | |
| ENST00000683622.1:n.1405G>T | ||
| ENST00000683751.1:c.1195+1G>T | ENSP00000506944.1:n.1195+1G>T | |
| ENST00000684036.1:c.1507+1G>T | ENSP00000507276.1:n.1507+1G>T | |
| ENST00000684129.1:c.517+1G>T | ENSP00000507174.1:n.517+1G>T | |
| ENST00000684209.1:n.2065+1G>T | ||
| ENST00000684296.1:c.*610+1G>T | ENSP00000507740.1:n.*610+1G>T | |
| ENST00000684505.1:c.1639+1G>T | ENSP00000508237.1:n.1639+1G>T | |
| ENST00000684552.1:c.*3109+1G>T | ENSP00000506899.1:n.*3109+1G>T | |
| ENST00000684611.1:n.3418+1G>T | ||
| ENST00000684622.1:c.1690+1G>T | ENSP00000507546.1:n.1690+1G>T | |
| ENST00000684627.1:c.1507+1G>T | ENSP00000507471.1:n.1507+1G>T | |
| ENST00000684641.1:c.1405+1G>T | ENSP00000507642.1:n.1405+1G>T | |
| ENST00000684675.1:c.*537+1G>T | ENSP00000506934.1:n.*537+1G>T | |
| ENST00000684749.1:n.1759+1G>T | ||
| ENST00000511912.6:c.1690+1G>T MANE Select | ENSP00000426638.1:n.1690+1G>T | |
| ENST00000307738.5:c.1549+1G>T | ENSP00000303552.5:n.1549+1G>T | |
| ENST00000506422.1:n.660+1G>T | ||
| ENST00000511912.5:c.1690+1G>T | ENSP00000426638.1:n.1690+1G>T | |
| NM_001281737.1:c.1549+1G>T | NP_001268666.1:n.1549+1G>T | |
| NM_001281738.1:c.1507+1G>T | NP_001268667.1:n.1507+1G>T | |
| NM_004453.3:c.1690+1G>T | NP_004444.2:n.1690+1G>T | |
| XM_024453935.1:c.1507+1G>T | XP_024309703.1:n.1507+1G>T | |
| NM_004453.4:c.1690+1G>T MANE Select | NP_004444.2:n.1690+1G>T | |
| NM_001281737.2:c.1549+1G>T | NP_001268666.1:n.1549+1G>T |