Linked Data
ClinVar Variation Id:
354829
ClinVar RCV Id:
RCV000267518
dbSNP Id:
rs542434422
gnomAD v2:
6-108189737-C-G
gnomAD v3:
6-107868533-C-G
gnomAD v4:
6-107868533-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107868533C>G , CM000668.2:g.107868533C>G | GRCh38 |
| NC_000006.11:g.108189737C>G , CM000668.1:g.108189737C>G | GRCh37 |
| NC_000006.10:g.108296430C>G | NCBI36 |
| NG_008270.1:g.94746G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*3171G>C MANE Select | ENSP00000357998.4:n.*3171G>C | |
| ENST00000369002.8:c.*3171G>C | ENSP00000357998.4:n.*3171G>C | |
| NM_007214.4:c.*3171G>C | NP_009145.1:n.*3171G>C | |
| NM_007214.5:c.*3171G>C MANE Select | NP_009145.1:n.*3171G>C |