Linked Data
dbSNP Id:
rs781955783
ExAC:
X:153035609 C / T
gnomAD v2:
X-153035609-C-T
gnomAD v4:
X-153770154-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153770154C>T , CM000685.2:g.153770154C>T | GRCh38 |
| NC_000023.10:g.153035609C>T , CM000685.1:g.153035609C>T | GRCh37 |
| NC_000023.9:g.152688803C>T | NCBI36 |
| NG_013255.1:g.10959C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000361971.10:c.1692C>T MANE Select | ENSP00000355378.5:p.Phe564= | |
| ENST00000361971.9:c.1692C>T | ENSP00000355378.5:p.Phe564= | |
| ENST00000538966.5:c.1761C>T | ENSP00000442736.1:p.Phe587= | |
| NM_001163257.1:c.1761C>T | NP_001156729.1:p.Phe587= | |
| NM_005393.2:c.1692C>T | NP_005384.2:p.Phe564= | |
| NM_005393.3:c.1692C>T MANE Select | NP_005384.2:p.Phe564= | |
| NM_001163257.2:c.1761C>T | NP_001156729.1:p.Phe587= |