Linked Data
ClinVar Variation Id:
307450
dbSNP Id:
rs116733542
gnomAD v2:
12-121177561-C-G
gnomAD v3:
12-120739758-C-G
gnomAD v4:
12-120739758-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.120739758C>G , CM000674.2:g.120739758C>G | GRCh38 |
| NC_000012.11:g.121177561C>G , CM000674.1:g.121177561C>G | GRCh37 |
| NC_000012.10:g.119661944C>G | NCBI36 |
| NG_007991.1:g.18991C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000242592.9:c.*310C>G MANE Select | ENSP00000242592.4:n.*310C>G | |
| ENST00000242592.8:c.*310C>G | ENSP00000242592.4:n.*310C>G | |
| NM_000017.3:c.*310C>G | NP_000008.1:n.*310C>G | |
| NM_001302554.1:c.*310C>G | NP_001289483.1:n.*310C>G | |
| NM_000017.4:c.*310C>G MANE Select | NP_000008.1:n.*310C>G | |
| NM_001302554.2:c.*310C>G | NP_001289483.1:n.*310C>G |