Linked Data
ClinVar Variation Id:
1753829
dbSNP Id:
rs755211450
ExAC:
X:133547915 T / C
gnomAD v2:
X-133547915-T-C
gnomAD v3:
X-134413885-T-C
gnomAD v4:
X-134413885-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134413885T>C , CM000685.2:g.134413885T>C | GRCh38 |
| NC_000023.10:g.133547915T>C , CM000685.1:g.133547915T>C | GRCh37 |
| NC_000023.9:g.133375581T>C | NCBI36 |
| NG_008886.1:g.45574T>C , LRG_629:g.45574T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*567T>C | ENSP00000510193.1:n.*567T>C | |
| ENST00000687496.1:c.546T>C | ENSP00000509551.1:p.His182= | |
| ENST00000688598.1:c.546T>C | ENSP00000510410.1:p.His182= | |
| ENST00000691812.1:c.648T>C | ENSP00000510211.1:p.His216= | |
| ENST00000693759.1:c.*260T>C | ENSP00000509518.1:n.*260T>C | |
| ENST00000370803.8:c.648T>C MANE Select | ENSP00000359839.4:p.His216= | |
| ENST00000332070.7:c.648T>C | ENSP00000329097.3:p.His216= | |
| ENST00000370799.5:c.651T>C | ENSP00000359835.1:p.His217= | |
| ENST00000370800.4:c.651T>C | ENSP00000359836.4:p.His217= | |
| ENST00000370803.7:c.648T>C | ENSP00000359839.3:p.His216= | |
| ENST00000625464.2:c.651T>C | ENSP00000487420.1:p.His217= | |
| NM_001015877.1:c.648T>C , LRG_629t1:c.648T>C | NP_001015877.1:p.His216= | |
| NM_032335.3:c.651T>C , LRG_629t2:c.651T>C | NP_115711.2:p.His217= | |
| NM_032458.2:c.648T>C | NP_115834.1:p.His216= | |
| NM_001015877.2:c.648T>C MANE Select | NP_001015877.1:p.His216= | |
| NM_032458.3:c.648T>C | NP_115834.1:p.His216= |