Linked Data
ClinVar Variation Id:
2773851
ClinVar RCV Id:
RCV003528643
dbSNP Id:
rs760656490
ExAC:
16:15844047 C / T
gnomAD v2:
16-15844047-C-T
gnomAD v4:
16-15750190-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.15750190C>T , CM000678.2:g.15750190C>T | GRCh38 |
| NC_000016.9:g.15844047C>T , CM000678.1:g.15844047C>T | GRCh37 |
| NC_000016.8:g.15751548C>T | NCBI36 |
| NG_009299.1:g.111841G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300036.6:c.2006G>A MANE Select | ENSP00000300036.5:p.Arg669His | |
| ENST00000452625.7:c.2027G>A MANE Plus Clinical | ENSP00000407821.2:p.Arg676His | |
| ENST00000576790.7:c.2006G>A | ENSP00000458731.1:p.Arg669His | |
| ENST00000652121.1:c.*189G>A | ENSP00000498314.1:n.*189G>A | |
| ENST00000300036.5:c.2006G>A | ENSP00000300036.5:p.Arg669His | |
| ENST00000396324.7:c.2027G>A | ENSP00000379616.3:p.Arg676His | |
| ENST00000452625.6:c.2027G>A | ENSP00000407821.2:p.Arg676His | |
| ENST00000570785.1:n.2428G>A | ||
| ENST00000576790.6:c.2006G>A | ENSP00000458731.1:p.Arg669His | |
| ENST00000616439.4:c.2027G>A | ENSP00000484924.1:p.Arg676His | |
| NM_001040113.1:c.2027G>A | NP_001035202.1:p.Arg676His | |
| NM_001040114.1:c.2027G>A | NP_001035203.1:p.Arg676His | |
| NM_002474.2:c.2006G>A | NP_002465.1:p.Arg669His | |
| NM_022844.2:c.2006G>A | NP_074035.1:p.Arg669His | |
| XM_011522502.1:c.2006G>A | XP_011520804.1:p.Arg669His | |
| XM_011522502.2:c.2006G>A | XP_011520804.1:p.Arg669His | |
| XM_017023250.1:c.2027G>A | XP_016878739.1:p.Arg676His | |
| NM_002474.3:c.2006G>A MANE Select | NP_002465.1:p.Arg669His | |
| NM_001040113.2:c.2027G>A MANE Plus Clinical | NP_001035202.1:p.Arg676His | |
| NM_001040114.2:c.2027G>A | NP_001035203.1:p.Arg676His | |
| NM_022844.3:c.2006G>A | NP_074035.1:p.Arg669His |