Linked Data
ClinVar Variation Id:
1512799
ClinVar RCV Id:
RCV002023212
dbSNP Id:
rs763587236
gnomAD v2:
7-143018511-G-A
gnomAD v4:
7-143321418-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143321418G>A , CM000669.2:g.143321418G>A | GRCh38 |
| NC_000007.13:g.143018511G>A , CM000669.1:g.143018511G>A | GRCh37 |
| NC_000007.12:g.142728633G>A | NCBI36 |
| NG_009815.1:g.10293G>A | |
| NG_009815.2:g.10293G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650516.2:c.487G>A | ENSP00000498052.2:p.Val163Ile | |
| ENST00000343257.7:c.487G>A MANE Select | ENSP00000339867.2:p.Val163Ile | |
| ENST00000432192.6:c.255G>A | ||
| ENST00000650516.1:c.487G>A | ENSP00000498052.1:p.Val163Ile | |
| ENST00000343257.6:c.487G>A | ENSP00000339867.2:p.Val163Ile | |
| NM_000083.2:c.487G>A | NP_000074.2:p.Val163Ile | |
| NR_046453.1:n.574G>A | ||
| XM_011515781.1:c.487G>A | XP_011514083.1:p.Val163Ile | |
| XM_017011739.1:c.194G>A | XP_016867228.1:p.Gly65Asp | |
| XM_017011740.1:c.194G>A | XP_016867229.1:p.Gly65Asp | |
| NM_000083.3:c.487G>A MANE Select | NP_000074.3:p.Val163Ile | |
| NR_046453.2:n.589G>A |