Linked Data
ClinVar Variation Id:
1219933
ClinVar RCV Id:
RCV001590608
dbSNP Id:
rs191728277
gnomAD v2:
X-133547790-T-C
gnomAD v3:
X-134413760-T-C
gnomAD v4:
X-134413760-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.134413760T>C , CM000685.2:g.134413760T>C | GRCh38 |
| NC_000023.10:g.133547790T>C , CM000685.1:g.133547790T>C | GRCh37 |
| NC_000023.9:g.133375456T>C | NCBI36 |
| NG_008886.1:g.45449T>C , LRG_629:g.45449T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685553.1:c.*505-63T>C | ENSP00000510193.1:n.*505-63T>C | |
| ENST00000687496.1:c.484-63T>C | ENSP00000509551.1:n.484-63T>C | |
| ENST00000688598.1:c.484-63T>C | ENSP00000510410.1:n.484-63T>C | |
| ENST00000691812.1:c.586-63T>C | ENSP00000510211.1:n.586-63T>C | |
| ENST00000693759.1:c.*198-63T>C | ENSP00000509518.1:n.*198-63T>C | |
| ENST00000370803.8:c.586-63T>C MANE Select | ENSP00000359839.4:n.586-63T>C | |
| ENST00000332070.7:c.586-63T>C | ENSP00000329097.3:n.586-63T>C | |
| ENST00000370799.5:c.589-63T>C | ENSP00000359835.1:n.589-63T>C | |
| ENST00000370800.4:c.589-63T>C | ENSP00000359836.4:n.589-63T>C | |
| ENST00000370803.7:c.586-63T>C | ENSP00000359839.3:n.586-63T>C | |
| ENST00000625464.2:c.589-63T>C | ENSP00000487420.1:n.589-63T>C | |
| NM_001015877.1:c.586-63T>C , LRG_629t1:c.586-63T>C | NP_001015877.1:n.586-63T>C | |
| NM_032335.3:c.589-63T>C , LRG_629t2:c.589-63T>C | NP_115711.2:n.589-63T>C | |
| NM_032458.2:c.586-63T>C | NP_115834.1:n.586-63T>C | |
| NM_001015877.2:c.586-63T>C MANE Select | NP_001015877.1:n.586-63T>C | |
| NM_032458.3:c.586-63T>C | NP_115834.1:n.586-63T>C |