Linked Data
ClinVar Variation Id:
127518
dbSNP Id:
rs146504061
ExAC:
15:91298049 A / G
gnomAD v2:
15-91298049-A-G
gnomAD v3:
15-90754819-A-G
gnomAD v4:
15-90754819-A-G
PubMed:
PMID:24728327
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.90754819A>G , CM000677.2:g.90754819A>G | GRCh38 |
| NC_000015.9:g.91298049A>G , CM000677.1:g.91298049A>G | GRCh37 |
| NC_000015.8:g.89099053A>G | NCBI36 |
| NG_007272.1:g.42448A>G , LRG_20:g.42448A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355112.8:c.968A>G MANE Select | ENSP00000347232.3:p.Lys323Arg | |
| ENST00000648453.1:c.968A>G | ENSP00000497646.1:p.Lys323Arg | |
| ENST00000680772.1:c.968A>G | ENSP00000506117.1:p.Lys323Arg | |
| ENST00000681142.1:c.968A>G | ENSP00000506682.1:p.Lys323Arg | |
| ENST00000355112.7:c.968A>G | ENSP00000347232.3:p.Lys323Arg | |
| ENST00000558599.1:n.229A>G | ||
| ENST00000559724.5:c.968A>G | ENSP00000453359.1:p.Lys323Arg | |
| ENST00000560509.5:c.968A>G | ENSP00000454158.1:p.Lys323Arg | |
| NM_000057.3:c.968A>G | NP_000048.1:p.Lys323Arg | |
| NM_001287246.1:c.968A>G | NP_001274175.1:p.Lys323Arg | |
| NM_001287247.1:c.968A>G | NP_001274176.1:p.Lys323Arg | |
| NM_001287248.1:c.-324A>G | NP_001274177.1:n.-324A>G | |
| XM_011521881.1:c.-214A>G | XP_011520183.1:n.-214A>G | |
| XM_011521882.1:c.968A>G | XP_011520184.1:p.Lys323Arg | |
| XM_011521881.2:c.-214A>G | XP_011520183.1:n.-214A>G | |
| XM_011521882.3:c.968A>G | XP_011520184.1:p.Lys323Arg | |
| NM_000057.4:c.968A>G MANE Select | NP_000048.1:p.Lys323Arg | |
| NM_001287246.2:c.968A>G | NP_001274175.1:p.Lys323Arg | |
| NM_001287247.2:c.968A>G | NP_001274176.1:p.Lys323Arg | |
| NM_001287248.2:c.-324A>G | NP_001274177.1:n.-324A>G |