Linked Data
dbSNP Id:
rs190868914
gnomAD v2:
X-153005752-C-T
gnomAD v3:
X-153740298-C-T
gnomAD v4:
X-153740298-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153740298C>T , CM000685.2:g.153740298C>T | GRCh38 |
| NC_000023.10:g.153005752C>T , CM000685.1:g.153005752C>T | GRCh37 |
| NC_000023.9:g.152658946C>T | NCBI36 |
| NG_009022.2:g.20431C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000218104.6:c.1634+61C>T MANE Select | ENSP00000218104.3:n.1634+61C>T | |
| ENST00000218104.5:c.1634+61C>T | ENSP00000218104.3:n.1634+61C>T | |
| ENST00000443684.2:n.637+61C>T | ||
| NM_000033.3:c.1634+61C>T | NP_000024.2:n.1634+61C>T | |
| XR_938507.1:n.2106+61C>T | ||
| XR_938507.2:n.2106+61C>T | ||
| NM_000033.4:c.1634+61C>T MANE Select | NP_000024.2:n.1634+61C>T |