Linked Data
ClinVar Variation Id:
2058769
ClinVar RCV Id:
RCV002952454
dbSNP Id:
rs1181207786
gnomAD v2:
17-4925892-A-G
gnomAD v4:
17-5022597-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.5022597A>G , CM000679.2:g.5022597A>G | GRCh38 |
| NC_000017.10:g.4925892A>G , CM000679.1:g.4925892A>G | GRCh37 |
| NC_000017.9:g.4866616A>G | NCBI36 |
| NG_034137.1:g.29650A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320785.10:c.2516A>G MANE Select | ENSP00000320821.5:p.Lys839Arg | |
| ENST00000320785.9:c.2516A>G | ENSP00000320821.5:p.Lys839Arg | |
| NM_006612.5:c.2516A>G | NP_006603.2:p.Lys839Arg | |
| XM_005256424.1:c.2516A>G | XP_005256481.1:p.Lys839Arg | |
| XM_005256424.2:c.2516A>G | XP_005256481.1:p.Lys839Arg | |
| NM_006612.6:c.2516A>G MANE Select | NP_006603.2:p.Lys839Arg |