Linked Data
ClinVar Variation Id:
354832
ClinVar RCV Id:
RCV000290063
dbSNP Id:
rs541730962
gnomAD v2:
6-108189781-G-A
gnomAD v3:
6-107868577-G-A
gnomAD v4:
6-107868577-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.107868577G>A , CM000668.2:g.107868577G>A | GRCh38 |
| NC_000006.11:g.108189781G>A , CM000668.1:g.108189781G>A | GRCh37 |
| NC_000006.10:g.108296474G>A | NCBI36 |
| NG_008270.1:g.94702C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369002.9:c.*3127C>T MANE Select | ENSP00000357998.4:n.*3127C>T | |
| ENST00000369002.8:c.*3127C>T | ENSP00000357998.4:n.*3127C>T | |
| NM_007214.4:c.*3127C>T | NP_009145.1:n.*3127C>T | |
| NM_007214.5:c.*3127C>T MANE Select | NP_009145.1:n.*3127C>T |