Linked Data
ClinVar Variation Id:
966076
dbSNP Id:
rs147581794
ExAC:
7:143016929 G / A
gnomAD v2:
7-143016929-G-A
gnomAD v3:
7-143319836-G-A
gnomAD v4:
7-143319836-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143319836G>A , CM000669.2:g.143319836G>A | GRCh38 |
| NC_000007.13:g.143016929G>A , CM000669.1:g.143016929G>A | GRCh37 |
| NC_000007.12:g.142727051G>A | NCBI36 |
| NG_009815.1:g.8711G>A | |
| NG_009815.2:g.8711G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.262G>A | ENSP00000498052.2:p.Val88Met | |
| ENST00000343257.7:c.262G>A MANE Select | ENSP00000339867.2:p.Val88Met | |
| ENST00000432192.6:c.30G>A | ||
| ENST00000650516.1:c.262G>A | ENSP00000498052.1:p.Val88Met | |
| ENST00000343257.6:c.262G>A | ENSP00000339867.2:p.Val88Met | |
| NM_000083.2:c.262G>A | NP_000074.2:p.Val88Met | |
| NR_046453.1:n.349G>A | ||
| XM_011515781.1:c.262G>A | XP_011514083.1:p.Val88Met | |
| XM_017011739.1:c.-32G>A | XP_016867228.1:n.-32G>A | |
| XM_017011740.1:c.-32G>A | XP_016867229.1:n.-32G>A | |
| NM_000083.3:c.262G>A MANE Select | NP_000074.3:p.Val88Met | |
| NR_046453.2:n.364G>A |