Linked Data
ClinVar Variation Id:
362786
ClinVar RCV Id:
RCV000261551
dbSNP Id:
rs11574157
gnomAD v2:
8-30891288-G-C
gnomAD v3:
8-31033772-G-C
gnomAD v4:
8-31033772-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31033772G>C , CM000670.2:g.31033772G>C | GRCh38 |
| NC_000008.10:g.30891288G>C , CM000670.1:g.30891288G>C | GRCh37 |
| NC_000008.9:g.31010830G>C | NCBI36 |
| NG_008870.1:g.5511G>C , LRG_524:g.5511G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| NM_000553.4:c.-278G>C , LRG_524t1:c.-278G>C | NP_000544.2:n.-278G>C | |
| NM_000553.5:c.-278G>C | NP_000544.2:n.-278G>C | |
| XM_011544639.3:c.-278G>C | XP_011542941.1:n.-278G>C | |
| XR_949470.3:n.24G>C | ||
| XR_949471.3:n.24G>C | ||
| XR_949472.3:n.24G>C |