Linked Data
ClinVar Variation Id:
3181520
ClinVar RCV Id:
RCV004470867
dbSNP Id:
rs1311048769
gnomAD v2:
9-6328783-A-G
gnomAD v4:
9-6328783-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.6328783A>G , CM000671.2:g.6328783A>G | GRCh38 |
| NC_000009.11:g.6328783A>G , CM000671.1:g.6328783A>G | GRCh37 |
| NC_000009.10:g.6318783A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000314556.4:c.188A>G MANE Select | ENSP00000318665.3:p.Lys63Arg | |
| ENST00000314556.3:c.188A>G | ENSP00000318665.3:p.Lys63Arg | |
| ENST00000344545.6:c.188A>G | ENSP00000341677.5:p.Lys63Arg | |
| ENST00000381428.1:c.188A>G | ENSP00000370836.1:p.Lys63Arg | |
| NM_001001874.2:c.188A>G | NP_001001874.1:p.Lys63Arg | |
| NM_001001875.3:c.188A>G | NP_001001875.1:p.Lys63Arg | |
| NM_033516.5:c.188A>G | NP_277051.3:p.Lys63Arg | |
| XM_017015280.2:c.188A>G | XP_016870769.1:p.Lys63Arg | |
| NM_001001874.3:c.188A>G MANE Select | NP_001001874.2:p.Lys63Arg | |
| NM_001001875.4:c.188A>G | NP_001001875.2:p.Lys63Arg | |
| NM_033516.6:c.188A>G | NP_277051.4:p.Lys63Arg |