Linked Data
ClinVar Variation Id:
1477140
ClinVar RCV Id:
RCV002018661
dbSNP Id:
rs747891068
ExAC:
16:4847981 C / T
gnomAD v2:
16-4847981-C-T
gnomAD v3:
16-4797980-C-T
gnomAD v4:
16-4797980-C-T
COSMIC:
COSM5754856
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4797980C>T , CM000678.2:g.4797980C>T | GRCh38 |
| NC_000016.9:g.4847981C>T , CM000678.1:g.4847981C>T | GRCh37 |
| NC_000016.8:g.4787982C>T | NCBI36 |
| NG_032174.1:g.9971G>A , LRG_455:g.9971G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.653G>A MANE Select | ENSP00000322832.6:p.Arg218His | |
| ENST00000322048.11:c.653G>A | ENSP00000322832.5:p.Arg218His | |
| ENST00000586153.1:c.299G>A | ENSP00000464699.1:p.Arg100His | |
| ENST00000586336.5:n.752G>A | ||
| ENST00000586504.5:c.425+91G>A | ||
| ENST00000587377.5:c.666G>A | ENSP00000468343.1:p.Pro222= | |
| ENST00000587711.5:c.338G>A | ENSP00000467459.1:p.Arg113His | |
| ENST00000587843.5:c.*391G>A | ENSP00000465970.1:n.*391G>A | |
| ENST00000588201.5:c.*644G>A | ENSP00000466529.1:n.*644G>A | |
| ENST00000589543.5:n.610G>A | ||
| ENST00000591292.5:n.1982G>A | ||
| ENST00000591392.5:c.581G>A | ENSP00000467509.1:p.Arg194His | |
| ENST00000592019.1:c.77-165G>A | ||
| NM_024589.2:c.653G>A , LRG_455t1:c.653G>A | NP_078865.1:p.Arg218His | |
| NR_046480.1:n.977G>A | ||
| XM_006720947.2:c.653G>A | XP_006721010.1:p.Arg218His | |
| XM_006720948.2:c.383G>A | XP_006721011.1:p.Arg128His | |
| XM_006720947.4:c.653G>A | XP_006721010.1:p.Arg218His | |
| XM_006720948.4:c.383G>A | XP_006721011.1:p.Arg128His | |
| NM_024589.3:c.653G>A MANE Select | NP_078865.1:p.Arg218His | |
| NR_046480.2:n.660G>A |