Linked Data
ClinVar Variation Id:
478384
dbSNP Id:
rs143443167
ExAC:
3:52427005 A / G
gnomAD v2:
3-52427005-A-G
gnomAD v3:
3-52392989-A-G
gnomAD v4:
3-52392989-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52392989A>G , CM000665.2:g.52392989A>G | GRCh38 |
| NC_000003.11:g.52427005A>G , CM000665.1:g.52427005A>G | GRCh37 |
| NC_000003.10:g.52402045A>G | NCBI36 |
| NG_052911.1:g.81671A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.10438A>G MANE Select | ENSP00000401514.2:p.Ile3480Val | |
| ENST00000420323.6:c.10438A>G | ENSP00000401514.2:p.Ile3480Val | |
| ENST00000486752.5:n.10895A>G | ||
| ENST00000488988.5:n.2224A>G | ||
| ENST00000490713.5:c.1138A>G | ENSP00000419071.1:p.Ile380Val | |
| NM_015512.4:c.10438A>G | NP_056327.4:p.Ile3480Val | |
| XM_011533577.1:c.10507A>G | XP_011531879.1:p.Ile3503Val | |
| XM_017006129.1:c.10507A>G | XP_016861618.1:p.Ile3503Val | |
| XM_017006130.1:c.10438A>G | XP_016861619.1:p.Ile3480Val | |
| XM_017006131.1:c.10381A>G | XP_016861620.1:p.Ile3461Val | |
| XR_001740098.1:n.13656A>G | ||
| XR_001740099.1:n.13656A>G | ||
| NM_015512.5:c.10438A>G MANE Select | NP_056327.4:p.Ile3480Val |