Linked Data
ClinVar Variation Id:
354842
ClinVar RCV Id:
RCV000356871
dbSNP Id:
rs513325
gnomAD v2:
6-108190246-C-T
gnomAD v3:
6-107869042-C-T
gnomAD v4:
6-107869042-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107869042C>T , CM000668.2:g.107869042C>T | GRCh38 |
| NC_000006.11:g.108190246C>T , CM000668.1:g.108190246C>T | GRCh37 |
| NC_000006.10:g.108296939C>T | NCBI36 |
| NG_008270.1:g.94237G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*2662G>A MANE Select | ENSP00000357998.4:n.*2662G>A | |
| ENST00000369002.8:c.*2662G>A | ENSP00000357998.4:n.*2662G>A | |
| NM_007214.4:c.*2662G>A | NP_009145.1:n.*2662G>A | |
| NM_007214.5:c.*2662G>A MANE Select | NP_009145.1:n.*2662G>A |