Linked Data
ClinVar Variation Id:
354840
ClinVar RCV Id:
RCV000403269
dbSNP Id:
rs74799313
gnomAD v2:
6-108190097-G-A
gnomAD v3:
6-107868893-G-A
gnomAD v4:
6-107868893-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107868893G>A , CM000668.2:g.107868893G>A | GRCh38 |
| NC_000006.11:g.108190097G>A , CM000668.1:g.108190097G>A | GRCh37 |
| NC_000006.10:g.108296790G>A | NCBI36 |
| NG_008270.1:g.94386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*2811C>T MANE Select | ENSP00000357998.4:n.*2811C>T | |
| ENST00000369002.8:c.*2811C>T | ENSP00000357998.4:n.*2811C>T | |
| NM_007214.4:c.*2811C>T | NP_009145.1:n.*2811C>T | |
| NM_007214.5:c.*2811C>T MANE Select | NP_009145.1:n.*2811C>T |