Linked Data
ClinVar Variation Id:
1404352
ClinVar RCV Id:
RCV001927708
dbSNP Id:
rs767231116
ExAC:
7:143036358 A / G
gnomAD v2:
7-143036358-A-G
gnomAD v3:
7-143339265-A-G
gnomAD v4:
7-143339265-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.143339265A>G , CM000669.2:g.143339265A>G | GRCh38 |
| NC_000007.13:g.143036358A>G , CM000669.1:g.143036358A>G | GRCh37 |
| NC_000007.12:g.142746480A>G | NCBI36 |
| NG_009815.1:g.28140A>G | |
| NG_009815.2:g.28140A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000650516.2:c.1414A>G | ENSP00000498052.2:p.Ile472Val | |
| ENST00000343257.7:c.1414A>G MANE Select | ENSP00000339867.2:p.Ile472Val | |
| ENST00000432192.6:c.1238A>G | ||
| ENST00000343257.6:c.1414A>G | ENSP00000339867.2:p.Ile472Val | |
| NM_000083.2:c.1414A>G | NP_000074.2:p.Ile472Val | |
| NR_046453.1:n.1354A>G | ||
| XM_011515781.1:c.1438A>G | XP_011514083.1:p.Ile480Val | |
| XM_011515782.1:c.160A>G | XP_011514084.1:p.Ile54Val | |
| XM_011515782.2:c.160A>G | XP_011514084.1:p.Ile54Val | |
| XM_017011739.1:c.988A>G | XP_016867228.1:p.Ile330Val | |
| XM_017011740.1:c.964A>G | XP_016867229.1:p.Ile322Val | |
| NM_000083.3:c.1414A>G MANE Select | NP_000074.3:p.Ile472Val | |
| NR_046453.2:n.1369A>G |