Linked Data
ClinVar Variation Id:
796280
ClinVar RCV Id:
RCV001514452
dbSNP Id:
rs761180935
ExAC:
X:133547981 C / T
gnomAD v2:
X-133547981-C-T
gnomAD v3:
X-134413951-C-T
gnomAD v4:
X-134413951-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134413951C>T , CM000685.2:g.134413951C>T | GRCh38 |
| NC_000023.10:g.133547981C>T , CM000685.1:g.133547981C>T | GRCh37 |
| NC_000023.9:g.133375647C>T | NCBI36 |
| NG_008886.1:g.45640C>T , LRG_629:g.45640C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*633C>T | ENSP00000510193.1:n.*633C>T | |
| ENST00000687496.1:c.612C>T | ENSP00000509551.1:p.Ala204= | |
| ENST00000688598.1:c.612C>T | ENSP00000510410.1:p.Ala204= | |
| ENST00000691812.1:c.714C>T | ENSP00000510211.1:p.Ala238= | |
| ENST00000693759.1:c.*326C>T | ENSP00000509518.1:n.*326C>T | |
| ENST00000370803.8:c.714C>T MANE Select | ENSP00000359839.4:p.Ala238= | |
| ENST00000332070.7:c.714C>T | ENSP00000329097.3:p.Ala238= | |
| ENST00000370799.5:c.717C>T | ENSP00000359835.1:p.Ala239= | |
| ENST00000370800.4:c.717C>T | ENSP00000359836.4:p.Ala239= | |
| ENST00000370803.7:c.714C>T | ENSP00000359839.3:p.Ala238= | |
| ENST00000625464.2:c.717C>T | ENSP00000487420.1:p.Ala239= | |
| NM_001015877.1:c.714C>T , LRG_629t1:c.714C>T | NP_001015877.1:p.Ala238= | |
| NM_032335.3:c.717C>T , LRG_629t2:c.717C>T | NP_115711.2:p.Ala239= | |
| NM_032458.2:c.714C>T | NP_115834.1:p.Ala238= | |
| NM_001015877.2:c.714C>T MANE Select | NP_001015877.1:p.Ala238= | |
| NM_032458.3:c.714C>T | NP_115834.1:p.Ala238= |