Linked Data
ClinVar Variation Id:
2942575
ClinVar RCV Id:
RCV003807741
MyVariant Identifiers:
chr7:g.143018528A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321435A>G , CM000669.2:g.143321435A>G | GRCh38 |
| NC_000007.13:g.143018528A>G , CM000669.1:g.143018528A>G | GRCh37 |
| NC_000007.12:g.142728650A>G | NCBI36 |
| NG_009815.1:g.10310A>G | |
| NG_009815.2:g.10310A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.504A>G | ENSP00000498052.2:p.Pro168= | |
| ENST00000343257.7:c.504A>G MANE Select | ENSP00000339867.2:p.Pro168= | |
| ENST00000432192.6:c.272A>G | ||
| ENST00000650516.1:c.504A>G | ENSP00000498052.1:p.Pro168= | |
| ENST00000343257.6:c.504A>G | ENSP00000339867.2:p.Pro168= | |
| NM_000083.2:c.504A>G | NP_000074.2:p.Pro168= | |
| NR_046453.1:n.591A>G | ||
| XM_011515781.1:c.504A>G | XP_011514083.1:p.Pro168= | |
| XM_017011739.1:c.211A>G | XP_016867228.1:p.Thr71Ala | |
| XM_017011740.1:c.211A>G | XP_016867229.1:p.Thr71Ala | |
| NM_000083.3:c.504A>G MANE Select | NP_000074.3:p.Pro168= | |
| NR_046453.2:n.606A>G |