Linked Data
ClinVar Variation Id:
359098
dbSNP Id:
rs200263856
ExAC:
7:143018444 A / G
gnomAD v2:
7-143018444-A-G
gnomAD v3:
7-143321351-A-G
gnomAD v4:
7-143321351-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321351A>G , CM000669.2:g.143321351A>G | GRCh38 |
| NC_000007.13:g.143018444A>G , CM000669.1:g.143018444A>G | GRCh37 |
| NC_000007.12:g.142728566A>G | NCBI36 |
| NG_009815.1:g.10226A>G | |
| NG_009815.2:g.10226A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.434-14A>G | ENSP00000498052.2:n.434-14A>G | |
| ENST00000343257.7:c.434-14A>G MANE Select | ENSP00000339867.2:n.434-14A>G | |
| ENST00000432192.6:c.202-14A>G | ||
| ENST00000650516.1:c.434-14A>G | ENSP00000498052.1:n.434-14A>G | |
| ENST00000343257.6:c.434-14A>G | ENSP00000339867.2:n.434-14A>G | |
| NM_000083.2:c.434-14A>G | NP_000074.2:n.434-14A>G | |
| NR_046453.1:n.521-14A>G | ||
| XM_011515781.1:c.434-14A>G | XP_011514083.1:n.434-14A>G | |
| XM_017011739.1:c.141-14A>G | XP_016867228.1:n.141-14A>G | |
| XM_017011740.1:c.141-14A>G | XP_016867229.1:n.141-14A>G | |
| NM_000083.3:c.434-14A>G MANE Select | NP_000074.3:n.434-14A>G | |
| NR_046453.2:n.536-14A>G |