Linked Data
ClinVar Variation Id:
1098946
ClinVar RCV Id:
RCV001421085
dbSNP Id:
rs2116834513
gnomAD v4:
7-143319763-C-A
MyVariant Identifiers:
chr7:g.143016856C>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143319763C>A , CM000669.2:g.143319763C>A | GRCh38 |
| NC_000007.13:g.143016856C>A , CM000669.1:g.143016856C>A | GRCh37 |
| NC_000007.12:g.142726978C>A | NCBI36 |
| NG_009815.1:g.8638C>A | |
| NG_009815.2:g.8638C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.189C>A | ENSP00000498052.2:p.Gly63= | |
| ENST00000343257.7:c.189C>A MANE Select | ENSP00000339867.2:p.Gly63= | |
| ENST00000650516.1:c.189C>A | ENSP00000498052.1:p.Gly63= | |
| ENST00000343257.6:c.189C>A | ENSP00000339867.2:p.Gly63= | |
| NM_000083.2:c.189C>A | NP_000074.2:p.Gly63= | |
| NR_046453.1:n.276C>A | ||
| XM_011515781.1:c.189C>A | XP_011514083.1:p.Gly63= | |
| XM_017011739.1:c.-105C>A | XP_016867228.1:n.-105C>A | |
| XM_017011740.1:c.-105C>A | XP_016867229.1:n.-105C>A | |
| NM_000083.3:c.189C>A MANE Select | NP_000074.3:p.Gly63= | |
| NR_046453.2:n.291C>A |