MutSpliceDB:
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158690426G>T , CM000666.2:g.158690426G>T | GRCh38 |
| NC_000004.11:g.159611578G>T , CM000666.1:g.159611578G>T | GRCh37 |
| NC_000004.10:g.159831028G>T | NCBI36 |
| NG_007078.2:g.23085G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000507475.6:n.457+1G>T | ||
| ENST00000681978.1:n.933+1G>T | ||
| ENST00000682178.1:n.1716+1G>T | ||
| ENST00000682345.1:c.*384+1G>T | ENSP00000508122.1:n.*384+1G>T | |
| ENST00000682452.1:n.1015+1G>T | ||
| ENST00000682456.1:c.684+1G>T | ENSP00000508240.1:n.684+1G>T | |
| ENST00000682601.1:n.875+1G>T | ||
| ENST00000682734.1:c.-490+1G>T | ENSP00000507860.1:n.-490+1G>T | |
| ENST00000682820.1:n.721+1G>T | ||
| ENST00000682910.1:n.992G>T | ||
| ENST00000683004.1:c.*521+1G>T | ENSP00000506936.1:n.*521+1G>T | |
| ENST00000683079.1:c.*64+1G>T | ENSP00000507296.1:n.*64+1G>T | |
| ENST00000683081.1:c.*521+1G>T | ENSP00000507722.1:n.*521+1G>T | |
| ENST00000683305.1:c.501+1G>T | ENSP00000508043.1:n.501+1G>T | |
| ENST00000683448.1:c.189+1G>T | ENSP00000506931.1:n.189+1G>T | |
| ENST00000683478.1:c.*64+1G>T | ENSP00000507793.1:n.*64+1G>T | |
| ENST00000683483.1:c.684+1G>T | ENSP00000507719.1:n.684+1G>T | |
| ENST00000683750.1:n.808G>T | ||
| ENST00000683751.1:c.189+1G>T | ENSP00000506944.1:n.189+1G>T | |
| ENST00000684036.1:c.501+1G>T | ENSP00000507276.1:n.501+1G>T | |
| ENST00000684129.1:c.-535+1G>T | ENSP00000507174.1:n.-535+1G>T | |
| ENST00000684209.1:n.924+1G>T | ||
| ENST00000684296.1:c.684+1G>T | ENSP00000507740.1:n.684+1G>T | |
| ENST00000684505.1:c.633+1G>T | ENSP00000508237.1:n.633+1G>T | |
| ENST00000684552.1:c.684+1G>T | ENSP00000506899.1:n.684+1G>T | |
| ENST00000684611.1:n.2412+1G>T | ||
| ENST00000684622.1:c.684+1G>T | ENSP00000507546.1:n.684+1G>T | |
| ENST00000684627.1:c.501+1G>T | ENSP00000507471.1:n.501+1G>T | |
| ENST00000684641.1:c.684+1G>T | ENSP00000507642.1:n.684+1G>T | |
| ENST00000684675.1:c.684+1G>T | ENSP00000506934.1:n.684+1G>T | |
| ENST00000684749.1:n.753+1G>T | ||
| ENST00000511912.6:c.684+1G>T MANE Select | ENSP00000426638.1:n.684+1G>T | |
| ENST00000307738.5:c.543+1G>T | ENSP00000303552.5:n.543+1G>T | |
| ENST00000506422.1:n.87-12997G>T | ||
| ENST00000507475.5:c.189+1G>T | ENSP00000422735.1:n.189+1G>T | |
| ENST00000511912.5:c.684+1G>T | ENSP00000426638.1:n.684+1G>T | |
| NM_001281737.1:c.543+1G>T | NP_001268666.1:n.543+1G>T | |
| NM_001281738.1:c.501+1G>T | NP_001268667.1:n.501+1G>T | |
| NM_004453.3:c.684+1G>T | NP_004444.2:n.684+1G>T | |
| XM_024453935.1:c.501+1G>T | XP_024309703.1:n.501+1G>T | |
| NM_004453.4:c.684+1G>T MANE Select | NP_004444.2:n.684+1G>T | |
| NM_001281737.2:c.543+1G>T | NP_001268666.1:n.543+1G>T |