Linked Data
ClinVar Variation Id:
354811
ClinVar RCV Id:
RCV000372304
dbSNP Id:
rs554141897
gnomAD v2:
6-108189204-G-C
gnomAD v3:
6-107868000-G-C
gnomAD v4:
6-107868000-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107868000G>C , CM000668.2:g.107868000G>C | GRCh38 |
| NC_000006.11:g.108189204G>C , CM000668.1:g.108189204G>C | GRCh37 |
| NC_000006.10:g.108295897G>C | NCBI36 |
| NG_008270.1:g.95279C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*3704C>G MANE Select | ENSP00000357998.4:n.*3704C>G | |
| ENST00000369002.8:c.*3704C>G | ENSP00000357998.4:n.*3704C>G | |
| NM_007214.4:c.*3704C>G | NP_009145.1:n.*3704C>G | |
| NM_007214.5:c.*3704C>G MANE Select | NP_009145.1:n.*3704C>G |