Linked Data
ClinVar Variation Id:
21507
dbSNP Id:
rs63750818
ExAC:
3:87289899 A / G
gnomAD v2:
3-87289899-A-G
gnomAD v3:
3-87240749-A-G
gnomAD v4:
3-87240749-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.87240749A>G , CM000665.2:g.87240749A>G | GRCh38 |
| NC_000003.11:g.87289899A>G , CM000665.1:g.87289899A>G | GRCh37 |
| NC_000003.10:g.87372589A>G | NCBI36 |
| NG_007885.1:g.18487A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000263780.9:c.85A>G MANE Select | ENSP00000263780.4:p.Ile29Val | |
| ENST00000472024.3:c.133A>G | ENSP00000480032.2:p.Ile45Val | |
| ENST00000676705.1:c.133A>G | ENSP00000504098.1:p.Ile45Val | |
| ENST00000676947.1:n.238A>G | ||
| ENST00000677929.1:n.323A>G | ||
| ENST00000678818.1:n.1062+296A>G | ||
| ENST00000678859.1:n.408A>G | ||
| ENST00000263780.8:c.85A>G | ENSP00000263780.4:p.Ile29Val | |
| ENST00000471660.5:c.4-4965A>G | ENSP00000419998.1:n.4-4965A>G | |
| ENST00000472024.2:c.133A>G | ENSP00000480032.1:p.Ile45Val | |
| ENST00000494980.5:c.85A>G | ENSP00000418920.1:p.Ile29Val | |
| NM_001244644.1:c.4-4965A>G | NP_001231573.1:n.4-4965A>G | |
| NM_014043.3:c.85A>G | NP_054762.2:p.Ile29Val | |
| XM_011533576.1:c.133A>G | XP_011531878.1:p.Ile45Val | |
| XM_011533576.2:c.133A>G | XP_011531878.1:p.Ile45Val | |
| NM_014043.4:c.85A>G MANE Select | NP_054762.2:p.Ile29Val | |
| NM_001244644.2:c.4-4965A>G | NP_001231573.1:n.4-4965A>G |