Linked Data
ClinVar Variation Id:
1204310
ClinVar RCV Id:
RCV001570628
dbSNP Id:
rs112749702
gnomAD v2:
X-133548105-A-T
gnomAD v3:
X-134414075-A-T
gnomAD v4:
X-134414075-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134414075A>T , CM000685.2:g.134414075A>T | GRCh38 |
| NC_000023.10:g.133548105A>T , CM000685.1:g.133548105A>T | GRCh37 |
| NC_000023.9:g.133375771A>T | NCBI36 |
| NG_008886.1:g.45764A>T , LRG_629:g.45764A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*648+109A>T | ENSP00000510193.1:n.*648+109A>T | |
| ENST00000687496.1:c.627+109A>T | ENSP00000509551.1:n.627+109A>T | |
| ENST00000688598.1:c.627+109A>T | ENSP00000510410.1:n.627+109A>T | |
| ENST00000691812.1:c.729+109A>T | ENSP00000510211.1:n.729+109A>T | |
| ENST00000693759.1:c.*341+109A>T | ENSP00000509518.1:n.*341+109A>T | |
| ENST00000370803.8:c.729+109A>T MANE Select | ENSP00000359839.4:n.729+109A>T | |
| ENST00000332070.7:c.729+109A>T | ENSP00000329097.3:n.729+109A>T | |
| ENST00000370799.5:c.732+109A>T | ENSP00000359835.1:n.732+109A>T | |
| ENST00000370800.4:c.732+109A>T | ENSP00000359836.4:n.732+109A>T | |
| ENST00000370803.7:c.729+109A>T | ENSP00000359839.3:n.729+109A>T | |
| ENST00000625464.2:c.732+109A>T | ENSP00000487420.1:n.732+109A>T | |
| NM_001015877.1:c.729+109A>T , LRG_629t1:c.729+109A>T | NP_001015877.1:n.729+109A>T | |
| NM_032335.3:c.732+109A>T , LRG_629t2:c.732+109A>T | NP_115711.2:n.732+109A>T | |
| NM_032458.2:c.729+109A>T | NP_115834.1:n.729+109A>T | |
| NM_001015877.2:c.729+109A>T MANE Select | NP_001015877.1:n.729+109A>T | |
| NM_032458.3:c.729+109A>T | NP_115834.1:n.729+109A>T |