Linked Data
ClinVar Variation Id:
1333827
ClinVar RCV Id:
RCV001809042
dbSNP Id:
rs1791883966
gnomAD v4:
7-98961364-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98961364A>G , CM000669.2:g.98961364A>G | GRCh38 |
| NC_000007.13:g.98558987A>G , CM000669.1:g.98558987A>G | GRCh37 |
| NC_000007.12:g.98396923A>G | NCBI36 |
| NG_030010.1:g.87875A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000446306.8:c.6515A>G | ENSP00000403708.3:p.Lys2172Arg | |
| ENST00000704588.1:c.2330A>G | ENSP00000515962.1:p.Lys777Arg | |
| ENST00000456197.2:c.6593A>G MANE Select | ENSP00000394645.2:p.Lys2198Arg | |
| ENST00000355540.7:c.6518A>G | ENSP00000347733.3:p.Lys2173Arg | |
| ENST00000359863.8:c.6572A>G | ENSP00000352925.4:p.Lys2191Arg | |
| ENST00000446306.7:c.6515A>G | ENSP00000403708.3:p.Lys2172Arg | |
| ENST00000456197.1:c.5737A>G | ||
| ENST00000628380.2:c.6515A>G | ENSP00000485781.1:p.Lys2172Arg | |
| NM_001244580.1:c.6572A>G | NP_001231509.1:p.Lys2191Arg | |
| NM_003496.3:c.6518A>G | NP_003487.1:p.Lys2173Arg | |
| NM_001375524.1:c.6593A>G MANE Select | NP_001362453.1:p.Lys2198Arg | |
| NM_001244580.2:c.6572A>G | NP_001231509.1:p.Lys2191Arg | |
| NM_003496.4:c.6518A>G | NP_003487.1:p.Lys2173Arg |