Linked Data
ClinVar Variation Id:
2564996
ClinVar RCV Id:
RCV003288377
dbSNP Id:
rs1286820110
gnomAD v2:
1-12025610-A-G
gnomAD v3:
1-11965553-A-G
gnomAD v4:
1-11965553-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.11965553A>G , CM000663.2:g.11965553A>G | GRCh38 |
| NC_000001.10:g.12025610A>G , CM000663.1:g.12025610A>G | GRCh37 |
| NC_000001.9:g.11948197A>G | NCBI36 |
| NG_008159.1:g.35865A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000196061.5:c.1544A>G MANE Select | ENSP00000196061.4:p.His515Arg | |
| ENST00000196061.4:c.1544A>G | ENSP00000196061.4:p.His515Arg | |
| ENST00000470133.1:n.158A>G | ||
| ENST00000491536.5:n.172A>G | ||
| NM_000302.3:c.1544A>G | NP_000293.2:p.His515Arg | |
| NM_001316320.1:c.1685A>G | NP_001303249.1:p.His562Arg | |
| XM_011541594.1:c.1625A>G | XP_011539896.1:p.His542Arg | |
| XM_024447707.1:c.878A>G | XP_024303475.1:p.His293Arg | |
| NM_000302.4:c.1544A>G MANE Select | NP_000293.2:p.His515Arg | |
| NM_001316320.2:c.1685A>G | NP_001303249.1:p.His562Arg |