Linked Data
ClinVar Variation Id:
290747
dbSNP Id:
rs76591348
ExAC:
3:52378570 A / G
gnomAD v2:
3-52378570-A-G
gnomAD v3:
3-52344554-A-G
gnomAD v4:
3-52344554-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.52344554A>G , CM000665.2:g.52344554A>G | GRCh38 |
| NC_000003.11:g.52378570A>G , CM000665.1:g.52378570A>G | GRCh37 |
| NC_000003.10:g.52353610A>G | NCBI36 |
| NG_052911.1:g.33236A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000420323.7:c.1351A>G MANE Select | ENSP00000401514.2:p.Lys451Glu | |
| ENST00000420323.6:c.1351A>G | ENSP00000401514.2:p.Lys451Glu | |
| ENST00000486752.5:n.1612A>G | ||
| ENST00000497875.1:n.1516A>G | ||
| NM_015512.4:c.1351A>G | NP_056327.4:p.Lys451Glu | |
| XM_011533577.1:c.1351A>G | XP_011531879.1:p.Lys451Glu | |
| XM_017006129.1:c.1351A>G | XP_016861618.1:p.Lys451Glu | |
| XM_017006130.1:c.1351A>G | XP_016861619.1:p.Lys451Glu | |
| XM_017006131.1:c.1351A>G | XP_016861620.1:p.Lys451Glu | |
| XM_017006132.1:c.1351A>G | XP_016861621.1:p.Lys451Glu | |
| XM_017006133.1:c.1351A>G | XP_016861622.1:p.Lys451Glu | |
| XR_001740098.1:n.4500A>G | ||
| XR_001740099.1:n.4500A>G | ||
| NM_015512.5:c.1351A>G MANE Select | NP_056327.4:p.Lys451Glu |