ClinVar RCV:
ClinVar Variation:
dbSNP:
Revel Score:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.106433779G>A , CM000674.2:g.106433779G>A | GRCh38 |
| NC_000012.11:g.106827557G>A , CM000674.1:g.106827557G>A | GRCh37 |
| NC_000012.10:g.105351687G>A | NCBI36 |
| NG_031837.1:g.81122G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228347.9:c.1688G>A MANE Select | ENSP00000228347.4:p.Arg563Lys | |
| ENST00000228347.8:c.1688G>A | ENSP00000228347.4:p.Arg563Lys | |
| ENST00000539066.5:c.1514G>A | ENSP00000445721.1:p.Arg505Lys | |
| NM_001160708.1:c.1514G>A | NP_001154180.1:p.Arg505Lys | |
| NM_018082.5:c.1688G>A | NP_060552.4:p.Arg563Lys | |
| XM_017019621.2:c.1688G>A | XP_016875110.1:p.Arg563Lys | |
| NM_018082.6:c.1688G>A MANE Select | NP_060552.4:p.Arg563Lys | |
| NM_001160708.2:c.1514G>A | NP_001154180.1:p.Arg505Lys |