Linked Data
ClinVar Variation Id:
458483
ClinVar RCV Id:
RCV000524721
dbSNP Id:
rs3087420
ExAC:
8:30916005 A / G
gnomAD v2:
8-30916005-A-G
gnomAD v3:
8-31058489-A-G
gnomAD v4:
8-31058489-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.31058489A>G , CM000670.2:g.31058489A>G | GRCh38 |
| NC_000008.10:g.30916005A>G , CM000670.1:g.30916005A>G | GRCh37 |
| NC_000008.9:g.31035547A>G | NCBI36 |
| NG_008870.1:g.30228A>G , LRG_524:g.30228A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000298139.7:c.42A>G MANE Select | ENSP00000298139.5:p.Lys14= | |
| ENST00000650667.1:c.42A>G | ENSP00000498593.1:p.Lys14= | |
| ENST00000298139.5:c.42A>G | ENSP00000298139.5:p.Lys14= | |
| NM_000553.4:c.42A>G , LRG_524t1:c.42A>G | NP_000544.2:p.Lys14= | |
| XM_011544639.1:c.42A>G | XP_011542941.1:p.Lys14= | |
| XR_949470.1:n.315A>G | ||
| XR_949471.1:n.315A>G | ||
| XR_949472.1:n.315A>G | ||
| NM_000553.5:c.42A>G | NP_000544.2:p.Lys14= | |
| XM_011544639.3:c.42A>G | XP_011542941.1:p.Lys14= | |
| XM_024447265.1:c.-293A>G | XP_024303033.1:n.-293A>G | |
| XR_949470.3:n.343A>G | ||
| XR_949471.3:n.343A>G | ||
| XR_949472.3:n.343A>G | ||
| NM_000553.6:c.42A>G MANE Select | NP_000544.2:p.Lys14= |