Linked Data
ClinVar Variation Id:
137088
dbSNP Id:
rs77846695
ExAC:
11:111899374 C / T
gnomAD v2:
11-111899374-C-T
gnomAD v3:
11-112028650-C-T
gnomAD v4:
11-112028650-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.112028650C>T , CM000673.2:g.112028650C>T | GRCh38 |
| NC_000011.9:g.111899374C>T , CM000673.1:g.111899374C>T | GRCh37 |
| NC_000011.8:g.111404584C>T | NCBI36 |
| NG_013342.1:g.8837C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000713569.1:c.506+11C>T | ENSP00000518862.1:n.506+11C>T | |
| ENST00000280346.11:c.506+11C>T MANE Select | ENSP00000280346.7:n.506+11C>T | |
| ENST00000527231.2:n.553+11C>T | ||
| ENST00000531306.2:c.364+2368C>T | ENSP00000433432.2:n.364+2368C>T | |
| ENST00000679368.1:c.506+11C>T | ENSP00000505314.1:n.506+11C>T | |
| ENST00000679466.1:n.553+11C>T | ||
| ENST00000679614.1:c.25-263C>T | ENSP00000506007.1:n.25-263C>T | |
| ENST00000679815.1:c.506+11C>T | ENSP00000504880.1:n.506+11C>T | |
| ENST00000679829.1:n.553+11C>T | ||
| ENST00000679878.1:c.473+11C>T | ENSP00000505567.1:n.473+11C>T | |
| ENST00000680010.1:c.506+11C>T | ENSP00000505768.1:n.506+11C>T | |
| ENST00000680331.1:c.381+2351C>T | ENSP00000506707.1:n.381+2351C>T | |
| ENST00000680411.1:c.251+11C>T | ENSP00000505915.1:n.251+11C>T | |
| ENST00000681316.1:c.506+11C>T | ENSP00000506560.1:n.506+11C>T | |
| ENST00000681328.1:c.506+11C>T | ENSP00000506355.1:n.506+11C>T | |
| ENST00000681339.1:c.506+11C>T | ENSP00000506167.1:n.506+11C>T | |
| ENST00000681638.1:c.506+11C>T | ENSP00000506090.1:n.506+11C>T | |
| ENST00000280346.10:c.506+11C>T | ENSP00000280346.6:n.506+11C>T | |
| ENST00000393051.5:c.506+11C>T | ENSP00000376771.1:n.506+11C>T | |
| ENST00000531306.1:c.241+2368C>T | ENSP00000433432.1:n.241+2368C>T | |
| ENST00000533297.1:c.*181+11C>T | ENSP00000435374.1:n.*181+11C>T | |
| NM_001931.4:c.506+11C>T | NP_001922.2:n.506+11C>T | |
| XM_011542647.1:c.506+11C>T | XP_011540949.1:n.506+11C>T | |
| XM_011542647.3:c.506+11C>T | XP_011540949.1:n.506+11C>T | |
| NM_001372031.1:c.506+11C>T | NP_001358960.1:n.506+11C>T | |
| NM_001372032.1:c.506+11C>T | NP_001358961.1:n.506+11C>T | |
| NM_001372033.1:c.506+11C>T | NP_001358962.1:n.506+11C>T | |
| NM_001372034.1:c.473+11C>T | NP_001358963.1:n.473+11C>T | |
| NM_001372035.1:c.506+11C>T | NP_001358964.1:n.506+11C>T | |
| NM_001372036.1:c.380+11C>T | NP_001358965.1:n.380+11C>T | |
| NM_001372037.1:c.338+11C>T | NP_001358966.1:n.338+11C>T | |
| NM_001372038.1:c.381+2351C>T | NP_001358967.1:n.381+2351C>T | |
| NM_001372039.1:c.506+11C>T | NP_001358968.1:n.506+11C>T | |
| NM_001372040.1:c.364+2368C>T | NP_001358969.1:n.364+2368C>T | |
| NM_001372041.1:c.506+11C>T | NP_001358970.1:n.506+11C>T | |
| NM_001372042.1:c.44+7C>T | NP_001358971.1:n.44+7C>T | |
| NM_001931.5:c.506+11C>T MANE Select | NP_001922.2:n.506+11C>T | |
| NR_164072.1:n.571+11C>T |