Linked Data
ClinVar Variation Id:
41037
ClinVar RCV Id:
RCV000033934
dbSNP Id:
rs72556399
gnomAD v2:
8-67090878-C-G
gnomAD v3:
8-66178643-C-G
gnomAD v4:
8-66178643-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.66178643C>G , CM000670.2:g.66178643C>G | GRCh38 |
| NC_000008.10:g.67090878C>G , CM000670.1:g.67090878C>G | GRCh37 |
| NC_000008.9:g.67253432C>G | NCBI36 |
| NG_016127.1:g.4821G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000276571.4:c.-365G>C | ENSP00000276571.3:n.-365G>C | |
| NM_000756.3:c.-365G>C | NP_000747.1:n.-365G>C |