Linked Data
ClinVar Variation Id:
361651
ClinVar RCV Id:
RCV000283828
dbSNP Id:
rs886062634
gnomAD v4:
8-117799566-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117799566C>G , CM000670.2:g.117799566C>G | GRCh38 |
| NC_000008.10:g.118811805C>G , CM000670.1:g.118811805C>G | GRCh37 |
| NC_000008.9:g.118880986C>G | NCBI36 |
| NG_007455.2:g.317254G>C , LRG_493:g.317254G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1854G>C | ||
| ENST00000378204.7:c.*146G>C MANE Select | ENSP00000367446.3:n.*146G>C | |
| ENST00000378204.6:c.*146G>C | ENSP00000367446.2:n.*146G>C | |
| NM_000127.2:c.*146G>C , LRG_493t1:c.*146G>C | NP_000118.2:n.*146G>C | |
| NM_000127.3:c.*146G>C MANE Select | NP_000118.2:n.*146G>C |