Linked Data
ClinVar Variation Id:
347958
ClinVar RCV Id:
RCV000301497
dbSNP Id:
rs748640706
ExAC:
4:159620289 C / T
gnomAD v2:
4-159620289-C-T
gnomAD v3:
4-158699137-C-T
gnomAD v4:
4-158699137-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158699137C>T , CM000666.2:g.158699137C>T | GRCh38 |
| NC_000004.11:g.159620289C>T , CM000666.1:g.159620289C>T | GRCh37 |
| NC_000004.10:g.159839739C>T | NCBI36 |
| NG_007078.2:g.31796C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2652+7C>T | ||
| ENST00000682178.1:n.2148+7C>T | ||
| ENST00000682345.1:c.*816+7C>T | ENSP00000508122.1:n.*816+7C>T | |
| ENST00000682452.1:n.1447+7C>T | ||
| ENST00000682456.1:c.975+7C>T | ENSP00000508240.1:n.975+7C>T | |
| ENST00000682566.1:n.1899+7C>T | ||
| ENST00000682613.1:n.1428+7C>T | ||
| ENST00000682734.1:c.-58+7C>T | ENSP00000507860.1:n.-58+7C>T | |
| ENST00000682820.1:n.1153+7C>T | ||
| ENST00000683004.1:c.*809+1438C>T | ENSP00000506936.1:n.*809+1438C>T | |
| ENST00000683079.1:c.*496+7C>T | ENSP00000507296.1:n.*496+7C>T | |
| ENST00000683081.1:c.*953+7C>T | ENSP00000507722.1:n.*953+7C>T | |
| ENST00000683181.1:n.350+7C>T | ||
| ENST00000683305.1:c.933+7C>T | ENSP00000508043.1:n.933+7C>T | |
| ENST00000683448.1:c.621+7C>T | ENSP00000506931.1:n.621+7C>T | |
| ENST00000683478.1:c.*467+7C>T | ENSP00000507793.1:n.*467+7C>T | |
| ENST00000683483.1:c.972+1438C>T | ENSP00000507719.1:n.972+1438C>T | |
| ENST00000683751.1:c.621+7C>T | ENSP00000506944.1:n.621+7C>T | |
| ENST00000684036.1:c.933+7C>T | ENSP00000507276.1:n.933+7C>T | |
| ENST00000684129.1:c.-103+7C>T | ENSP00000507174.1:n.-103+7C>T | |
| ENST00000684209.1:n.1491+7C>T | ||
| ENST00000684296.1:c.1116+7C>T | ENSP00000507740.1:n.1116+7C>T | |
| ENST00000684505.1:c.1065+7C>T | ENSP00000508237.1:n.1065+7C>T | |
| ENST00000684552.1:c.1116+7C>T | ENSP00000506899.1:n.1116+7C>T | |
| ENST00000684611.1:n.2844+7C>T | ||
| ENST00000684622.1:c.1116+7C>T | ENSP00000507546.1:n.1116+7C>T | |
| ENST00000684627.1:c.933+7C>T | ENSP00000507471.1:n.933+7C>T | |
| ENST00000684641.1:c.831+3494C>T | ENSP00000507642.1:n.831+3494C>T | |
| ENST00000684675.1:c.1116+7C>T | ENSP00000506934.1:n.1116+7C>T | |
| ENST00000684749.1:n.1185+7C>T | ||
| ENST00000511912.6:c.1116+7C>T MANE Select | ENSP00000426638.1:n.1116+7C>T | |
| ENST00000307738.5:c.975+7C>T | ENSP00000303552.5:n.975+7C>T | |
| ENST00000506422.1:n.87-4286C>T | ||
| ENST00000511912.5:c.1116+7C>T | ENSP00000426638.1:n.1116+7C>T | |
| NM_001281737.1:c.975+7C>T | NP_001268666.1:n.975+7C>T | |
| NM_001281738.1:c.933+7C>T | NP_001268667.1:n.933+7C>T | |
| NM_004453.3:c.1116+7C>T | NP_004444.2:n.1116+7C>T | |
| XM_024453935.1:c.933+7C>T | XP_024309703.1:n.933+7C>T | |
| NM_004453.4:c.1116+7C>T MANE Select | NP_004444.2:n.1116+7C>T | |
| NM_001281737.2:c.975+7C>T | NP_001268666.1:n.975+7C>T |