Linked Data
ClinVar Variation Id:
289866
dbSNP Id:
rs375716505
ExAC:
16:3293530 G / A
gnomAD v2:
16-3293530-G-A
gnomAD v3:
16-3243530-G-A
gnomAD v4:
16-3243530-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243530G>A , CM000678.2:g.3243530G>A | GRCh38 |
| NC_000016.9:g.3293530G>A , CM000678.1:g.3293530G>A | GRCh37 |
| NC_000016.8:g.3233531G>A | NCBI36 |
| NG_007871.1:g.18098C>T , LRG_190:g.18098C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1078C>T | ||
| ENST00000219596.6:c.1957C>T MANE Select | ENSP00000219596.1:p.Arg653Cys | |
| ENST00000219596.5:c.1957C>T | ENSP00000219596.1:p.Arg653Cys | |
| ENST00000339854.8:c.1417C>T | ENSP00000339639.4:p.Arg473Cys | |
| ENST00000536379.5:c.1324C>T | ENSP00000445079.1:p.Arg442Cys | |
| ENST00000536980.5:c.*233C>T | ENSP00000444178.1:n.*233C>T | |
| ENST00000537682.5:c.*233C>T | ENSP00000438611.1:n.*233C>T | |
| ENST00000538326.5:c.*582C>T | ENSP00000437486.1:n.*582C>T | |
| ENST00000539145.5:c.878C>T | ENSP00000444471.1:n.878C>T | |
| ENST00000541159.5:c.1499C>T | ENSP00000438711.1:n.1499C>T | |
| ENST00000542898.5:c.*233C>T | ENSP00000444615.1:n.*233C>T | |
| ENST00000570511.5:c.1362C>T | ENSP00000458312.1:n.1362C>T | |
| ENST00000572244.5:c.647C>T | ENSP00000461186.1:n.647C>T | |
| ENST00000574583.5:c.729C>T | ENSP00000460269.1:n.729C>T | |
| ENST00000576315.5:c.762C>T | ENSP00000460551.1:n.762C>T | |
| ENST00000621655.1:c.1494C>T | ENSP00000481436.1:n.1494C>T | |
| NM_000243.2:c.1957C>T , LRG_190t1:c.1957C>T | NP_000234.1:p.Arg653Cys | |
| NM_001198536.1:c.*161C>T | NP_001185465.1:n.*161C>T | |
| XM_017023236.2:c.1954C>T | XP_016878725.1:p.Arg652Cys | |
| NM_000243.3:c.1957C>T MANE Select | NP_000234.1:p.Arg653Cys | |
| NM_001198536.2:c.*161C>T | NP_001185465.2:n.*161C>T |