Linked Data
ClinVar Variation Id:
187183
ClinVar RCV Id:
RCV000166883
dbSNP Id:
rs786203534
gnomAD v4:
10-87863535-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87863535G>C , CM000672.2:g.87863535G>C | GRCh38 |
| NC_000010.10:g.89623292G>C , CM000672.1:g.89623292G>C | GRCh37 |
| NC_000010.9:g.89613272G>C | NCBI36 |
| NG_007466.2:g.5098G>C , LRG_311:g.5098G>C | |
| NG_033079.1:g.4903C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000706954.1:c.-17+893G>C | ENSP00000516674.1:n.-17+893G>C | |
| ENST00000688308.1:c.-17+422G>C | ENSP00000508752.1:n.-17+422G>C | |
| ENST00000693560.1:c.-415G>C | ENSP00000509861.1:n.-415G>C | |
| ENST00000371953.7:c.-935G>C | ENSP00000361021.3:n.-935G>C | |
| ENST00000610634.1:c.-1037G>C | ENSP00000477517.1:n.-1037G>C | |
| NM_000314.5:c.-934G>C | NP_000305.3:n.-934G>C | |
| NM_000314.6:c.-934G>C | NP_000305.3:n.-934G>C | |
| NM_001304717.2:c.-415G>C | NP_001291646.2:n.-415G>C | |
| NM_001304718.1:c.-1639G>C | NP_001291647.1:n.-1639G>C |