Linked Data
gnomAD v4:
X-153770189-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153770189C>A , CM000685.2:g.153770189C>A | GRCh38 |
| NC_000023.10:g.153035644C>A , CM000685.1:g.153035644C>A | GRCh37 |
| NC_000023.9:g.152688838C>A | NCBI36 |
| NG_013255.1:g.10994C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361971.10:c.1727C>A MANE Select | ENSP00000355378.5:p.Pro576His | |
| ENST00000361971.9:c.1727C>A | ENSP00000355378.5:p.Pro576His | |
| ENST00000538966.5:c.1796C>A | ENSP00000442736.1:p.Pro599His | |
| NM_001163257.1:c.1796C>A | NP_001156729.1:p.Pro599His | |
| NM_005393.2:c.1727C>A | NP_005384.2:p.Pro576His | |
| NM_005393.3:c.1727C>A MANE Select | NP_005384.2:p.Pro576His | |
| NM_001163257.2:c.1796C>A | NP_001156729.1:p.Pro599His |