Linked Data
dbSNP Id:
rs781307243
ExAC:
3:124456441 A / G
gnomAD v2:
3-124456441-A-G
gnomAD v3:
3-124737594-A-G
gnomAD v4:
3-124737594-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.124737594A>G , CM000665.2:g.124737594A>G | GRCh38 |
| NC_000003.11:g.124456441A>G , CM000665.1:g.124456441A>G | GRCh37 |
| NC_000003.10:g.125939131A>G | NCBI36 |
| NG_017037.1:g.12229A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000232607.7:c.337A>G MANE Select | ENSP00000232607.2:p.Ile113Val | |
| ENST00000232607.6:c.337A>G | ENSP00000232607.2:p.Ile113Val | |
| ENST00000460034.5:c.*81A>G | ENSP00000420409.1:n.*81A>G | |
| ENST00000462091.5:c.*9A>G | ENSP00000417893.1:n.*9A>G | |
| ENST00000467167.5:c.*235A>G | ENSP00000419618.1:n.*235A>G | |
| ENST00000474588.5:c.311-321A>G | ENSP00000420348.1:n.311-321A>G | |
| ENST00000479719.5:c.337A>G | ENSP00000420754.1:p.Ile113Val | |
| ENST00000497791.5:c.*9A>G | ENSP00000419121.1:n.*9A>G | |
| ENST00000498715.1:n.55A>G | ||
| NM_000373.3:c.337A>G | NP_000364.1:p.Ile113Val | |
| NR_033434.1:n.289A>G | ||
| NR_033437.1:n.542A>G | ||
| XR_001740253.2:n.367A>G | ||
| NM_000373.4:c.337A>G MANE Select | NP_000364.1:p.Ile113Val | |
| NR_033434.2:n.203A>G | ||
| NR_033437.2:n.456A>G |