Linked Data
dbSNP Id:
rs763064625
ExAC:
7:143049137 T / G
gnomAD v2:
7-143049137-T-G
gnomAD v4:
7-143352044-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143352044T>G , CM000669.2:g.143352044T>G | GRCh38 |
| NC_000007.13:g.143049137T>G , CM000669.1:g.143049137T>G | GRCh37 |
| NC_000007.12:g.142759259T>G | NCBI36 |
| NG_009815.1:g.40919T>G | |
| NG_009815.2:g.40919T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.*79T>G | ENSP00000498052.2:n.*79T>G | |
| ENST00000343257.7:c.*79T>G MANE Select | ENSP00000339867.2:n.*79T>G | |
| ENST00000343257.6:c.*79T>G | ENSP00000339867.2:n.*79T>G | |
| XM_011515781.1:c.*79T>G | XP_011514083.1:n.*79T>G | |
| XM_011515782.1:c.*79T>G | XP_011514084.1:n.*79T>G | |
| NM_000083.3:c.*79T>G MANE Select | NP_000074.3:n.*79T>G | |
| NR_046453.2:n.3001T>G |