Linked Data
ClinVar Variation Id:
354808
ClinVar RCV Id:
RCV000386601
dbSNP Id:
rs886060934
gnomAD v4:
6-107867904-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107867904T>C , CM000668.2:g.107867904T>C | GRCh38 |
| NC_000006.11:g.108189108T>C , CM000668.1:g.108189108T>C | GRCh37 |
| NC_000006.10:g.108295801T>C | NCBI36 |
| NG_008270.1:g.95375A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*3800A>G MANE Select | ENSP00000357998.4:n.*3800A>G | |
| ENST00000369002.8:c.*3800A>G | ENSP00000357998.4:n.*3800A>G | |
| NM_007214.4:c.*3800A>G | NP_009145.1:n.*3800A>G | |
| NM_007214.5:c.*3800A>G MANE Select | NP_009145.1:n.*3800A>G |