Linked Data
ClinVar Variation Id:
361652
ClinVar RCV Id:
RCV000343517
dbSNP Id:
rs886062635
gnomAD v2:
8-118811869-G-C
gnomAD v3:
8-117799630-G-C
gnomAD v4:
8-117799630-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.117799630G>C , CM000670.2:g.117799630G>C | GRCh38 |
| NC_000008.10:g.118811869G>C , CM000670.1:g.118811869G>C | GRCh37 |
| NC_000008.9:g.118881050G>C | NCBI36 |
| NG_007455.2:g.317190C>G , LRG_493:g.317190C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000684189.1:n.1790C>G | ||
| ENST00000684443.1:n.2449C>G | ||
| ENST00000378204.7:c.*82C>G MANE Select | ENSP00000367446.3:n.*82C>G | |
| ENST00000378204.6:c.*82C>G | ENSP00000367446.2:n.*82C>G | |
| NM_000127.2:c.*82C>G , LRG_493t1:c.*82C>G | NP_000118.2:n.*82C>G | |
| NM_000127.3:c.*82C>G MANE Select | NP_000118.2:n.*82C>G |