Linked Data
ClinVar Variation Id:
363190
ClinVar RCV Id:
RCV000341304
dbSNP Id:
rs180692385
gnomAD v2:
8-48872951-G-A
gnomAD v3:
8-47960391-G-A
gnomAD v4:
8-47960391-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960391G>A , CM000670.2:g.47960391G>A | GRCh38 |
| NC_000008.10:g.48872951G>A , CM000670.1:g.48872951G>A | GRCh37 |
| NC_000008.9:g.49035504G>A | NCBI36 |
| NG_023435.1:g.4793C>T , LRG_162:g.4793C>T | |
| NG_032967.1:g.5189G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-15+71G>A | ENSP00000430329.1:n.-15+71G>A | |
| NM_005914.3:c.-754G>A | NP_005905.2:n.-754G>A | |
| NM_182746.2:c.-638G>A | NP_877423.1:n.-638G>A | |
| XM_005251234.1:c.-1000G>A | XP_005251291.1:n.-1000G>A |