Linked Data
ClinVar Variation Id:
529449
dbSNP Id:
rs767046886
ExAC:
4:159624744 G / A
gnomAD v2:
4-159624744-G-A
gnomAD v3:
4-158703592-G-A
gnomAD v4:
4-158703592-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.158703592G>A , CM000666.2:g.158703592G>A | GRCh38 |
| NC_000004.11:g.159624744G>A , CM000666.1:g.159624744G>A | GRCh37 |
| NC_000004.10:g.159844194G>A | NCBI36 |
| NG_007078.2:g.36251G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000681978.1:n.2821+1G>A | ||
| ENST00000682178.1:n.2317+1G>A | ||
| ENST00000682345.1:c.*985+1G>A | ENSP00000508122.1:n.*985+1G>A | |
| ENST00000682452.1:n.1616+1G>A | ||
| ENST00000682456.1:c.1144+1G>A | ENSP00000508240.1:n.1144+1G>A | |
| ENST00000682566.1:n.2068+1G>A | ||
| ENST00000682613.1:n.1597+1G>A | ||
| ENST00000682734.1:c.112+1G>A | ENSP00000507860.1:n.112+1G>A | |
| ENST00000682820.1:n.1322+1G>A | ||
| ENST00000683004.1:c.*978+1G>A | ENSP00000506936.1:n.*978+1G>A | |
| ENST00000683079.1:c.*710+1G>A | ENSP00000507296.1:n.*710+1G>A | |
| ENST00000683081.1:c.*1122+1G>A | ENSP00000507722.1:n.*1122+1G>A | |
| ENST00000683181.1:n.564+1G>A | ||
| ENST00000683209.1:n.3611+1G>A | ||
| ENST00000683305.1:c.1102+1G>A | ENSP00000508043.1:n.1102+1G>A | |
| ENST00000683448.1:c.*205+1G>A | ENSP00000506931.1:n.*205+1G>A | |
| ENST00000683478.1:c.*636+1G>A | ENSP00000507793.1:n.*636+1G>A | |
| ENST00000683483.1:c.1141+1G>A | ENSP00000507719.1:n.1141+1G>A | |
| ENST00000683622.1:n.999+1G>A | ||
| ENST00000683751.1:c.790+1G>A | ENSP00000506944.1:n.790+1G>A | |
| ENST00000684036.1:c.1102+1G>A | ENSP00000507276.1:n.1102+1G>A | |
| ENST00000684129.1:c.112+1G>A | ENSP00000507174.1:n.112+1G>A | |
| ENST00000684209.1:n.1660+1G>A | ||
| ENST00000684296.1:c.*205+1G>A | ENSP00000507740.1:n.*205+1G>A | |
| ENST00000684505.1:c.1234+1G>A | ENSP00000508237.1:n.1234+1G>A | |
| ENST00000684552.1:c.*205+1G>A | ENSP00000506899.1:n.*205+1G>A | |
| ENST00000684611.1:n.3013+1G>A | ||
| ENST00000684622.1:c.1285+1G>A | ENSP00000507546.1:n.1285+1G>A | |
| ENST00000684627.1:c.1102+1G>A | ENSP00000507471.1:n.1102+1G>A | |
| ENST00000684641.1:c.1000+1G>A | ENSP00000507642.1:n.1000+1G>A | |
| ENST00000684675.1:c.*132+1G>A | ENSP00000506934.1:n.*132+1G>A | |
| ENST00000684749.1:n.1354+1G>A | ||
| ENST00000511912.6:c.1285+1G>A MANE Select | ENSP00000426638.1:n.1285+1G>A | |
| ENST00000307738.5:c.1144+1G>A | ENSP00000303552.5:n.1144+1G>A | |
| ENST00000506422.1:n.255+1G>A | ||
| ENST00000511912.5:c.1285+1G>A | ENSP00000426638.1:n.1285+1G>A | |
| NM_001281737.1:c.1144+1G>A | NP_001268666.1:n.1144+1G>A | |
| NM_001281738.1:c.1102+1G>A | NP_001268667.1:n.1102+1G>A | |
| NM_004453.3:c.1285+1G>A | NP_004444.2:n.1285+1G>A | |
| XM_024453935.1:c.1102+1G>A | XP_024309703.1:n.1102+1G>A | |
| NM_004453.4:c.1285+1G>A MANE Select | NP_004444.2:n.1285+1G>A | |
| NM_001281737.2:c.1144+1G>A | NP_001268666.1:n.1144+1G>A |