Linked Data
ClinVar Variation Id:
211780
dbSNP Id:
rs201211377
ExAC:
X:128674716 C / T
gnomAD v2:
X-128674716-C-T
gnomAD v3:
X-129540739-C-T
gnomAD v4:
X-129540739-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.129540739C>T , CM000685.2:g.129540739C>T | GRCh38 |
| NC_000023.10:g.128674716C>T , CM000685.1:g.128674716C>T | GRCh37 |
| NC_000023.9:g.128502397C>T | NCBI36 |
| NG_008638.1:g.5465C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000691455.1:c.39+261C>T | ENSP00000510265.1:n.39+261C>T | |
| ENST00000371113.9:c.40-5C>T MANE Select | ENSP00000360154.4:n.40-5C>T | |
| ENST00000357121.5:c.40-5C>T | ENSP00000349635.5:n.40-5C>T | |
| ENST00000371113.8:c.40-5C>T | ENSP00000360154.4:n.40-5C>T | |
| ENST00000486673.1:n.91+800C>T | ||
| NM_000276.3:c.40-5C>T | NP_000267.2:n.40-5C>T | |
| NM_001587.3:c.40-5C>T | NP_001578.2:n.40-5C>T | |
| XM_005262422.1:c.-353+800C>T | XP_005262479.1:n.-353+800C>T | |
| XM_011531342.1:c.40-2C>T | XP_011529644.1:n.40-2C>T | |
| XM_011531343.1:c.40-2C>T | XP_011529645.1:n.40-2C>T | |
| XM_011531344.1:c.-146-4219C>T | XP_011529646.1:n.-146-4219C>T | |
| XM_011531345.1:c.-147+800C>T | XP_011529647.1:n.-147+800C>T | |
| XM_011531346.1:c.40-2C>T | XP_011529648.1:n.40-2C>T | |
| NM_001318784.1:c.40-2C>T | NP_001305713.1:n.40-2C>T | |
| XM_005262422.2:c.-353+800C>T | XP_005262479.1:n.-353+800C>T | |
| XM_011531344.3:c.-146-4219C>T | XP_011529646.1:n.-146-4219C>T | |
| XM_011531345.3:c.-147+800C>T | XP_011529647.1:n.-147+800C>T | |
| XM_017029554.1:c.40-5C>T | XP_016885043.1:n.40-5C>T | |
| NM_000276.4:c.40-5C>T MANE Select | NP_000267.2:n.40-5C>T | |
| NM_001318784.2:c.40-2C>T | NP_001305713.1:n.40-2C>T | |
| NM_001587.4:c.40-5C>T | NP_001578.2:n.40-5C>T |