Linked Data
ClinVar Variation Id:
1922352
ClinVar RCV Id:
RCV002621588
dbSNP Id:
rs770285966
ExAC:
11:118962824 C / T
gnomAD v2:
11-118962824-C-T
gnomAD v3:
11-119092114-C-T
gnomAD v4:
11-119092114-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.119092114C>T , CM000673.2:g.119092114C>T | GRCh38 |
| NC_000011.9:g.118962824C>T , CM000673.1:g.118962824C>T | GRCh37 |
| NC_000011.8:g.118468034C>T | NCBI36 |
| NG_008093.1:g.12238C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000686218.1:c.448-11C>T | ENSP00000509288.1:n.448-11C>T | |
| ENST00000691144.1:n.2354-11C>T | ||
| ENST00000691249.1:n.1197-11C>T | ||
| ENST00000442944.7:c.595-11C>T | ENSP00000392041.3:n.595-11C>T | |
| ENST00000536813.6:c.562-11C>T | ENSP00000438726.2:n.562-11C>T | |
| ENST00000546302.6:c.535-11C>T | ENSP00000445599.1:n.535-11C>T | |
| ENST00000640813.1:c.461+240C>T | ENSP00000491061.1:n.461+240C>T | |
| ENST00000648026.1:c.507-11C>T | ENSP00000498044.1:n.507-11C>T | |
| ENST00000648374.1:c.562-11C>T | ENSP00000497255.1:n.562-11C>T | |
| ENST00000648488.1:c.*86-11C>T | ENSP00000498079.1:n.*86-11C>T | |
| ENST00000649823.1:n.830-11C>T | ||
| ENST00000650101.1:c.544-11C>T | ENSP00000496970.1:n.544-11C>T | |
| ENST00000650307.1:n.1439-11C>T | ||
| ENST00000652429.1:c.613-11C>T MANE Select | ENSP00000498786.1:n.613-11C>T | |
| ENST00000278715.7:c.613-11C>T | ENSP00000278715.3:n.613-11C>T | |
| ENST00000392841.1:c.562-11C>T | ENSP00000376584.1:n.562-11C>T | |
| ENST00000442944.6:c.562-11C>T | ENSP00000392041.2:n.562-11C>T | |
| ENST00000537841.5:c.562-11C>T | ENSP00000444730.1:n.562-11C>T | |
| ENST00000542044.5:n.1058-11C>T | ||
| ENST00000542345.5:n.751-11C>T | ||
| ENST00000542729.5:c.562-11C>T | ENSP00000443058.1:n.562-11C>T | |
| ENST00000543090.5:c.559-290C>T | ENSP00000445429.1:n.559-290C>T | |
| ENST00000543543.5:n.848-11C>T | ||
| ENST00000544182.1:n.577C>T | ||
| ENST00000544387.5:c.613-11C>T | ENSP00000438424.1:n.613-11C>T | |
| ENST00000545621.5:c.*508-11C>T | ENSP00000444849.1:n.*508-11C>T | |
| ENST00000546226.5:n.901-11C>T | ||
| ENST00000546302.5:c.535-11C>T | ENSP00000445599.1:n.535-11C>T | |
| NM_000190.3:c.613-11C>T | NP_000181.2:n.613-11C>T | |
| NM_001024382.1:c.562-11C>T | NP_001019553.1:n.562-11C>T | |
| NM_001258208.1:c.613-11C>T | NP_001245137.1:n.613-11C>T | |
| NM_001258209.1:c.562-11C>T | NP_001245138.1:n.562-11C>T | |
| XM_005271531.1:c.562-11C>T | XP_005271588.1:n.562-11C>T | |
| XM_005271532.1:c.562-11C>T | XP_005271589.1:n.562-11C>T | |
| XM_005271533.2:c.559-11C>T | XP_005271590.1:n.559-11C>T | |
| XM_011542796.1:c.448-11C>T | XP_011541098.1:n.448-11C>T | |
| NM_000190.4:c.613-11C>T MANE Select | NP_000181.2:n.613-11C>T | |
| NM_001024382.2:c.562-11C>T | NP_001019553.1:n.562-11C>T | |
| XM_005271533.3:c.559-11C>T | XP_005271590.1:n.559-11C>T | |
| XM_017017629.1:c.562-11C>T | XP_016873118.1:n.562-11C>T | |
| XM_024448460.1:c.559-11C>T | XP_024304228.1:n.559-11C>T | |
| NM_001258208.2:c.613-11C>T | NP_001245137.1:n.613-11C>T | |
| NM_001258209.2:c.562-11C>T | NP_001245138.1:n.562-11C>T |