Linked Data
ClinVar Variation Id:
2553
dbSNP Id:
rs104895085
ExAC:
16:3293529 C / T
gnomAD v2:
16-3293529-C-T
gnomAD v3:
16-3243529-C-T
gnomAD v4:
16-3243529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243529C>T , CM000678.2:g.3243529C>T | GRCh38 |
| NC_000016.9:g.3293529C>T , CM000678.1:g.3293529C>T | GRCh37 |
| NC_000016.8:g.3233530C>T | NCBI36 |
| NG_007871.1:g.18099G>A , LRG_190:g.18099G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1079G>A | ||
| ENST00000219596.6:c.1958G>A MANE Select | ENSP00000219596.1:p.Arg653His | |
| ENST00000219596.5:c.1958G>A | ENSP00000219596.1:p.Arg653His | |
| ENST00000339854.8:c.1418G>A | ENSP00000339639.4:p.Arg473His | |
| ENST00000536379.5:c.1325G>A | ENSP00000445079.1:p.Arg442His | |
| ENST00000536980.5:c.*234G>A | ENSP00000444178.1:n.*234G>A | |
| ENST00000537682.5:c.*234G>A | ENSP00000438611.1:n.*234G>A | |
| ENST00000538326.5:c.*583G>A | ENSP00000437486.1:n.*583G>A | |
| ENST00000539145.5:c.879G>A | ENSP00000444471.1:n.879G>A | |
| ENST00000541159.5:c.1500G>A | ENSP00000438711.1:n.1500G>A | |
| ENST00000542898.5:c.*234G>A | ENSP00000444615.1:n.*234G>A | |
| ENST00000570511.5:c.1363G>A | ENSP00000458312.1:n.1363G>A | |
| ENST00000572244.5:c.648G>A | ENSP00000461186.1:n.648G>A | |
| ENST00000574583.5:c.730G>A | ENSP00000460269.1:n.730G>A | |
| ENST00000576315.5:c.763G>A | ENSP00000460551.1:n.763G>A | |
| ENST00000621655.1:c.1495G>A | ENSP00000481436.1:n.1495G>A | |
| NM_000243.2:c.1958G>A , LRG_190t1:c.1958G>A | NP_000234.1:p.Arg653His | |
| NM_001198536.1:c.*162G>A | NP_001185465.1:n.*162G>A | |
| XM_017023236.2:c.1955G>A | XP_016878725.1:p.Arg652His | |
| NM_000243.3:c.1958G>A MANE Select | NP_000234.1:p.Arg653His | |
| NM_001198536.2:c.*162G>A | NP_001185465.2:n.*162G>A |