Linked Data
ClinVar Variation Id:
883356
ClinVar RCV Id:
RCV001113695
dbSNP Id:
rs545204877
ExAC:
12:132425930 A / G
gnomAD v2:
12-132425930-A-G
gnomAD v4:
12-131941385-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.131941385A>G , CM000674.2:g.131941385A>G | GRCh38 |
| NC_000012.11:g.132425930A>G , CM000674.1:g.132425930A>G | GRCh37 |
| NC_000012.10:g.130991883A>G | NCBI36 |
| NG_013039.1:g.17186A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000376649.8:c.638A>G MANE Select | ENSP00000365837.3:p.Lys213Arg | |
| ENST00000322060.9:c.554A>G | ENSP00000324726.5:p.Lys185Arg | |
| ENST00000376649.7:c.638A>G | ENSP00000365837.3:p.Lys213Arg | |
| ENST00000443358.6:c.554A>G | ENSP00000392451.2:p.Lys185Arg | |
| ENST00000535067.5:c.358-2154A>G | ENSP00000443969.1:n.358-2154A>G | |
| ENST00000537484.1:c.563A>G | ENSP00000440179.1:p.Lys188Arg | |
| ENST00000542167.2:c.479A>G | ENSP00000438948.1:p.Lys160Arg | |
| ENST00000543754.1:n.459A>G | ||
| NM_001002019.2:c.554A>G | NP_001002019.1:p.Lys185Arg | |
| NM_001002020.2:c.554A>G | NP_001002020.1:p.Lys185Arg | |
| NM_025215.5:c.638A>G | NP_079491.2:p.Lys213Arg | |
| XM_011538768.1:c.239A>G | XP_011537070.1:p.Lys80Arg | |
| XM_011538768.3:c.239A>G | XP_011537070.1:p.Lys80Arg | |
| XR_001748872.1:n.1093A>G | ||
| NM_001002019.3:c.554A>G | NP_001002019.1:p.Lys185Arg | |
| NM_001002020.3:c.554A>G | NP_001002020.1:p.Lys185Arg | |
| NM_025215.6:c.638A>G MANE Select | NP_079491.2:p.Lys213Arg |