Linked Data
ClinVar Variation Id:
993122
ClinVar RCV Id:
RCV001284223
dbSNP Id:
rs786203676
gnomAD v4:
10-87863548-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863548G>T , CM000672.2:g.87863548G>T | GRCh38 |
| NC_000010.10:g.89623305G>T , CM000672.1:g.89623305G>T | GRCh37 |
| NC_000010.9:g.89613285G>T | NCBI36 |
| NG_007466.2:g.5111G>T , LRG_311:g.5111G>T | |
| NG_033079.1:g.4890C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706954.1:c.-16-906G>T | ENSP00000516674.1:n.-16-906G>T | |
| ENST00000688308.1:c.-17+435G>T | ENSP00000508752.1:n.-17+435G>T | |
| ENST00000693560.1:c.-402G>T | ENSP00000509861.1:n.-402G>T | |
| ENST00000371953.7:c.-922G>T | ENSP00000361021.3:n.-922G>T | |
| ENST00000610634.1:c.-1024G>T | ENSP00000477517.1:n.-1024G>T | |
| NM_000314.5:c.-921G>T | NP_000305.3:n.-921G>T | |
| NM_000314.6:c.-921G>T | NP_000305.3:n.-921G>T | |
| NM_001304717.2:c.-402G>T | NP_001291646.2:n.-402G>T | |
| NM_001304718.1:c.-1626G>T | NP_001291647.1:n.-1626G>T |