Linked Data
ClinVar Variation Id:
1324085
ClinVar RCV Id:
RCV001780790
dbSNP Id:
rs1586485438
gnomAD v4:
7-143321425-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321425T>G , CM000669.2:g.143321425T>G | GRCh38 |
| NC_000007.13:g.143018518T>G , CM000669.1:g.143018518T>G | GRCh37 |
| NC_000007.12:g.142728640T>G | NCBI36 |
| NG_009815.1:g.10300T>G | |
| NG_009815.2:g.10300T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.494T>G | ENSP00000498052.2:p.Val165Gly | |
| ENST00000343257.7:c.494T>G MANE Select | ENSP00000339867.2:p.Val165Gly | |
| ENST00000432192.6:c.262T>G | ||
| ENST00000650516.1:c.494T>G | ENSP00000498052.1:p.Val165Gly | |
| ENST00000343257.6:c.494T>G | ENSP00000339867.2:p.Val165Gly | |
| NM_000083.2:c.494T>G | NP_000074.2:p.Val165Gly | |
| NR_046453.1:n.581T>G | ||
| XM_011515781.1:c.494T>G | XP_011514083.1:p.Val165Gly | |
| XM_017011739.1:c.201T>G | XP_016867228.1:p.Gly67= | |
| XM_017011740.1:c.201T>G | XP_016867229.1:p.Gly67= | |
| NM_000083.3:c.494T>G MANE Select | NP_000074.3:p.Val165Gly | |
| NR_046453.2:n.596T>G |