Linked Data
ClinVar Variation Id:
507547
dbSNP Id:
rs781932978
ExAC:
11:111915967 C / T
gnomAD v2:
11-111915967-C-T
gnomAD v3:
11-112045243-C-T
gnomAD v4:
11-112045243-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112045243C>T , CM000673.2:g.112045243C>T | GRCh38 |
| NC_000011.9:g.111915967C>T , CM000673.1:g.111915967C>T | GRCh37 |
| NC_000011.8:g.111421177C>T | NCBI36 |
| NG_013342.1:g.25430C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.1290+13C>T | ENSP00000518862.1:n.1290+13C>T | |
| ENST00000280346.11:c.1290+13C>T MANE Select | ENSP00000280346.7:n.1290+13C>T | |
| ENST00000527231.2:n.1337+13C>T | ||
| ENST00000531306.2:c.909+13C>T | ENSP00000433432.2:n.909+13C>T | |
| ENST00000679368.1:c.*217+13C>T | ENSP00000505314.1:n.*217+13C>T | |
| ENST00000679466.1:n.1337+13C>T | ||
| ENST00000679614.1:c.687+13C>T | ENSP00000506007.1:n.687+13C>T | |
| ENST00000679815.1:c.*723+13C>T | ENSP00000504880.1:n.*723+13C>T | |
| ENST00000679878.1:c.1257+13C>T | ENSP00000505567.1:n.1257+13C>T | |
| ENST00000680010.1:c.*431+13C>T | ENSP00000505768.1:n.*431+13C>T | |
| ENST00000680154.1:n.729+13C>T | ||
| ENST00000680331.1:c.1011+13C>T | ENSP00000506707.1:n.1011+13C>T | |
| ENST00000680411.1:c.1035+13C>T | ENSP00000505915.1:n.1035+13C>T | |
| ENST00000681316.1:c.1284+13C>T | ENSP00000506560.1:n.1284+13C>T | |
| ENST00000681328.1:c.1290+13C>T | ENSP00000506355.1:n.1290+13C>T | |
| ENST00000681339.1:c.1290+13C>T | ENSP00000506167.1:n.1290+13C>T | |
| ENST00000681638.1:c.*643+13C>T | ENSP00000506090.1:n.*643+13C>T | |
| ENST00000280346.10:c.1290+13C>T | ENSP00000280346.6:n.1290+13C>T | |
| ENST00000393051.5:c.975+13C>T | ENSP00000376771.1:n.975+13C>T | |
| ENST00000531306.1:c.786+13C>T | ENSP00000433432.1:n.786+13C>T | |
| ENST00000533297.1:c.*965+13C>T | ENSP00000435374.1:n.*965+13C>T | |
| NM_001931.4:c.1290+13C>T | NP_001922.2:n.1290+13C>T | |
| XM_011542647.1:c.1290+13C>T | XP_011540949.1:n.1290+13C>T | |
| XM_011542647.3:c.1290+13C>T | XP_011540949.1:n.1290+13C>T | |
| NM_001372031.1:c.1290+13C>T | NP_001358960.1:n.1290+13C>T | |
| NM_001372032.1:c.1284+13C>T | NP_001358961.1:n.1284+13C>T | |
| NM_001372033.1:c.1290+13C>T | NP_001358962.1:n.1290+13C>T | |
| NM_001372034.1:c.1257+13C>T | NP_001358963.1:n.1257+13C>T | |
| NM_001372035.1:c.1290+13C>T | NP_001358964.1:n.1290+13C>T | |
| NM_001372036.1:c.1164+13C>T | NP_001358965.1:n.1164+13C>T | |
| NM_001372037.1:c.1122+13C>T | NP_001358966.1:n.1122+13C>T | |
| NM_001372038.1:c.1011+13C>T | NP_001358967.1:n.1011+13C>T | |
| NM_001372039.1:c.975+13C>T | NP_001358968.1:n.975+13C>T | |
| NM_001372040.1:c.909+13C>T | NP_001358969.1:n.909+13C>T | |
| NM_001372041.1:c.975+13C>T | NP_001358970.1:n.975+13C>T | |
| NM_001372042.1:c.828+13C>T | NP_001358971.1:n.828+13C>T | |
| NM_001931.5:c.1290+13C>T MANE Select | NP_001922.2:n.1290+13C>T | |
| NR_164072.1:n.1167+13C>T |