Linked Data
ClinVar Variation Id:
379398
dbSNP Id:
rs190690083
ExAC:
X:152958830 C / T
gnomAD v2:
X-152958830-C-T
gnomAD v3:
X-153693375-C-T
gnomAD v4:
X-153693375-C-T
ERepo:
CA10549374/MONDO:0010305/027
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153693375C>T , CM000685.2:g.153693375C>T | GRCh38 |
| NC_000023.10:g.152958830C>T , CM000685.1:g.152958830C>T | GRCh37 |
| NC_000023.9:g.152612024C>T | NCBI36 |
| NG_012016.1:g.10079C>T | |
| NG_012016.2:g.10079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000253122.10:c.1016+9C>T MANE Select | ENSP00000253122.5:n.1016+9C>T | |
| ENST00000253122.9:c.1016+9C>T | ENSP00000253122.5:n.1016+9C>T | |
| ENST00000413787.1:c.162+9C>T | ENSP00000400463.1:n.162+9C>T | |
| ENST00000430077.6:c.671+9C>T | ENSP00000403041.2:n.671+9C>T | |
| ENST00000442457.1:c.100+9C>T | ||
| ENST00000467402.1:n.146-117C>T | ||
| ENST00000485324.1:n.1049+9C>T | ||
| NM_001142805.1:c.1016+9C>T | NP_001136277.1:n.1016+9C>T | |
| NM_001142806.1:c.671+9C>T | NP_001136278.1:n.671+9C>T | |
| NM_005629.3:c.1016+9C>T | NP_005620.1:n.1016+9C>T | |
| NM_005629.4:c.1016+9C>T MANE Select | NP_005620.1:n.1016+9C>T | |
| NM_001142805.2:c.1016+9C>T | NP_001136277.1:n.1016+9C>T |