Linked Data
ClinVar Variation Id:
488750
ClinVar RCV Id:
RCV000578914
dbSNP Id:
rs1554889928
gnomAD v4:
10-87863554-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863554C>T , CM000672.2:g.87863554C>T | GRCh38 |
| NC_000010.10:g.89623311C>T , CM000672.1:g.89623311C>T | GRCh37 |
| NC_000010.9:g.89613291C>T | NCBI36 |
| NG_007466.2:g.5117C>T , LRG_311:g.5117C>T | |
| NG_033079.1:g.4884G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-900C>T | ENSP00000516674.1:n.-16-900C>T | |
| ENST00000688308.1:c.-17+441C>T | ENSP00000508752.1:n.-17+441C>T | |
| ENST00000693560.1:c.-396C>T | ENSP00000509861.1:n.-396C>T | |
| ENST00000371953.7:c.-916C>T | ENSP00000361021.3:n.-916C>T | |
| ENST00000610634.1:c.-1018C>T | ENSP00000477517.1:n.-1018C>T | |
| NM_000314.5:c.-915C>T | NP_000305.3:n.-915C>T | |
| NM_000314.6:c.-915C>T | NP_000305.3:n.-915C>T | |
| NM_001304717.2:c.-396C>T | NP_001291646.2:n.-396C>T | |
| NM_001304718.1:c.-1620C>T | NP_001291647.1:n.-1620C>T |