Linked Data
ClinVar Variation Id:
2957989
ClinVar RCV Id:
RCV003814237
dbSNP Id:
rs773595972
ExAC:
X:70357017 C / T
gnomAD v2:
X-70357017-C-T
gnomAD v4:
X-71137167-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.71137167C>T , CM000685.2:g.71137167C>T | GRCh38 |
| NC_000023.10:g.70357017C>T , CM000685.1:g.70357017C>T | GRCh37 |
| NC_000023.9:g.70273742C>T | NCBI36 |
| NG_012808.1:g.23612C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000333646.11:c.5432-20C>T | ENSP00000333125.8:n.5432-20C>T | |
| ENST00000374102.6:c.5552-20C>T | ENSP00000363215.2:n.5552-20C>T | |
| ENST00000444034.2:c.527-20C>T | ENSP00000404373.2:n.527-20C>T | |
| ENST00000685082.1:n.152-67C>T | ||
| ENST00000685182.1:n.2355-20C>T | ||
| ENST00000686169.1:n.1929-20C>T | ||
| ENST00000686548.1:c.*5448-20C>T | ENSP00000509582.1:n.*5448-20C>T | |
| ENST00000687161.1:n.2267-20C>T | ||
| ENST00000687382.1:c.5552-20C>T | ENSP00000510724.1:n.5552-20C>T | |
| ENST00000687542.1:n.87-20C>T | ||
| ENST00000687701.1:n.2302-20C>T | ||
| ENST00000687973.1:n.31C>T | ||
| ENST00000688079.1:n.3547-20C>T | ||
| ENST00000688508.1:n.1103-20C>T | ||
| ENST00000688663.1:c.*2473-20C>T | ENSP00000509348.1:n.*2473-20C>T | |
| ENST00000688774.1:c.526+138C>T | ENSP00000508823.1:n.526+138C>T | |
| ENST00000688881.1:n.2206-20C>T | ||
| ENST00000688993.1:n.1923-20C>T | ||
| ENST00000689768.1:n.4162-20C>T | ||
| ENST00000690145.1:c.5552-20C>T | ENSP00000508818.1:n.5552-20C>T | |
| ENST00000690242.1:c.5552-20C>T | ENSP00000510090.1:n.5552-20C>T | |
| ENST00000690250.1:n.3221-20C>T | ||
| ENST00000690807.1:c.527-20C>T | ENSP00000510476.1:n.527-20C>T | |
| ENST00000690828.1:n.5808-20C>T | ||
| ENST00000691113.1:c.4031-20C>T | ENSP00000509755.1:n.4031-20C>T | |
| ENST00000691426.1:n.4851-20C>T | ||
| ENST00000691468.1:c.5501-20C>T | ENSP00000509011.1:n.5501-20C>T | |
| ENST00000691909.1:n.2272-20C>T | ||
| ENST00000692304.1:c.5552-20C>T | ENSP00000508427.1:n.5552-20C>T | |
| ENST00000692893.1:n.2861-20C>T | ||
| ENST00000692964.1:n.2386-20C>T | ||
| ENST00000693182.1:n.256-20C>T | ||
| ENST00000693324.1:c.5516-20C>T | ENSP00000508643.1:n.5516-20C>T | |
| ENST00000693391.1:c.3497-20C>T | ENSP00000509563.1:n.3497-20C>T | |
| ENST00000374080.8:c.5552-20C>T MANE Select | ENSP00000363193.3:n.5552-20C>T | |
| ENST00000333646.10:c.5093-20C>T | ENSP00000333125.7:n.5093-20C>T | |
| ENST00000374080.7:c.5552-20C>T | ENSP00000363193.3:n.5552-20C>T | |
| ENST00000374102.5:c.5552-20C>T | ENSP00000363215.1:n.5552-20C>T | |
| ENST00000444034.1:c.214-20C>T | ||
| NM_005120.2:c.5552-20C>T | NP_005111.2:n.5552-20C>T | |
| XM_005262317.1:c.5552-20C>T | XP_005262374.1:n.5552-20C>T | |
| XM_005262319.1:c.5552-20C>T | XP_005262376.1:n.5552-20C>T | |
| NM_005120.3:c.5552-20C>T MANE Select | NP_005111.2:n.5552-20C>T |