Linked Data
ClinVar Variation Id:
282108
ClinVar RCV Id:
RCV000280348
dbSNP Id:
rs569432039
ExAC:
11:6638186 G / A
gnomAD v2:
11-6638186-G-A
gnomAD v3:
11-6616955-G-A
gnomAD v4:
11-6616955-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616955G>A , CM000673.2:g.6616955G>A | GRCh38 |
| NC_000011.9:g.6638186G>A , CM000673.1:g.6638186G>A | GRCh37 |
| NC_000011.8:g.6594762G>A | NCBI36 |
| NG_008653.1:g.7507C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.573+20C>T | ENSP00000507321.1:n.573+20C>T | |
| ENST00000299427.12:c.687+20C>T MANE Select | ENSP00000299427.6:n.687+20C>T | |
| ENST00000436873.7:c.312+346C>T | ||
| ENST00000524788.2:n.1846+20C>T | ||
| ENST00000524903.2:n.1962+20C>T | ||
| ENST00000528807.2:n.343+20C>T | ||
| ENST00000530040.2:n.479+404C>T | ||
| ENST00000533371.6:c.-43+20C>T | ENSP00000437066.1:n.-43+20C>T | |
| ENST00000642892.1:c.-43+20C>T | ENSP00000494165.1:n.-43+20C>T | |
| ENST00000643439.1:c.*427+20C>T | ENSP00000495849.1:n.*427+20C>T | |
| ENST00000643479.1:n.716+20C>T | ||
| ENST00000643516.1:c.395+346C>T | ||
| ENST00000644151.1:n.2126+20C>T | ||
| ENST00000644218.1:c.687+20C>T | ENSP00000493574.1:n.687+20C>T | |
| ENST00000644683.1:c.*140+20C>T | ENSP00000494085.1:n.*140+20C>T | |
| ENST00000644810.1:c.408+20C>T | ENSP00000495895.1:n.408+20C>T | |
| ENST00000644831.1:n.863+20C>T | ||
| ENST00000644933.1:c.-43+20C>T | ENSP00000496133.1:n.-43+20C>T | |
| ENST00000645020.1:n.1882C>T | ||
| ENST00000645285.1:c.-43+20C>T | ENSP00000495058.1:n.-43+20C>T | |
| ENST00000645331.1:n.1053+20C>T | ||
| ENST00000645620.1:c.-43+20C>T | ENSP00000493657.1:n.-43+20C>T | |
| ENST00000646777.1:n.863+20C>T | ||
| ENST00000647016.1:n.1167+20C>T | ||
| ENST00000647152.1:c.-43+20C>T | ENSP00000495893.1:n.-43+20C>T | |
| ENST00000647209.1:c.*556+20C>T | ENSP00000495558.1:n.*556+20C>T | |
| ENST00000647346.1:n.1707+20C>T | ||
| ENST00000299427.10:c.687+20C>T | ENSP00000299427.6:n.687+20C>T | |
| ENST00000436873.6:c.450+404C>T | ENSP00000398136.2:n.450+404C>T | |
| ENST00000524788.1:n.387+20C>T | ||
| ENST00000528807.1:n.237+20C>T | ||
| ENST00000533371.5:c.-43+20C>T | ENSP00000437066.1:n.-43+20C>T | |
| ENST00000611494.4:c.687+20C>T | ENSP00000484546.1:n.687+20C>T | |
| NM_000391.3:c.687+20C>T | NP_000382.3:n.687+20C>T | |
| NM_000391.4:c.687+20C>T MANE Select | NP_000382.3:n.687+20C>T |