Linked Data
ClinVar Variation Id:
97496
dbSNP Id:
rs104895202
gnomAD v2:
16-3293365-G-A
gnomAD v3:
16-3243365-G-A
gnomAD v4:
16-3243365-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243365G>A , CM000678.2:g.3243365G>A | GRCh38 |
| NC_000016.9:g.3293365G>A , CM000678.1:g.3293365G>A | GRCh37 |
| NC_000016.8:g.3233366G>A | NCBI36 |
| NG_007871.1:g.18263C>T , LRG_190:g.18263C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1243C>T | ||
| ENST00000219596.6:c.2122C>T MANE Select | ENSP00000219596.1:p.Arg708Cys | |
| ENST00000219596.5:c.2122C>T | ENSP00000219596.1:p.Arg708Cys | |
| ENST00000339854.8:c.1582C>T | ENSP00000339639.4:p.Arg528Cys | |
| ENST00000536379.5:c.1489C>T | ENSP00000445079.1:p.Arg497Cys | |
| ENST00000536980.5:c.*398C>T | ENSP00000444178.1:n.*398C>T | |
| ENST00000537682.5:c.*398C>T | ENSP00000438611.1:n.*398C>T | |
| ENST00000538326.5:c.*747C>T | ENSP00000437486.1:n.*747C>T | |
| ENST00000539145.5:c.1043C>T | ENSP00000444471.1:n.1043C>T | |
| ENST00000541159.5:c.1664C>T | ENSP00000438711.1:n.1664C>T | |
| ENST00000542898.5:c.*398C>T | ENSP00000444615.1:n.*398C>T | |
| ENST00000570511.5:c.1527C>T | ENSP00000458312.1:n.1527C>T | |
| ENST00000572244.5:c.812C>T | ENSP00000461186.1:n.812C>T | |
| ENST00000574583.5:c.894C>T | ENSP00000460269.1:n.894C>T | |
| ENST00000576315.5:c.927C>T | ENSP00000460551.1:n.927C>T | |
| ENST00000621655.1:c.1659C>T | ENSP00000481436.1:n.1659C>T | |
| NM_000243.2:c.2122C>T , LRG_190t1:c.2122C>T | NP_000234.1:p.Arg708Cys | |
| NM_001198536.1:c.*326C>T | NP_001185465.1:n.*326C>T | |
| XM_017023236.2:c.2119C>T | XP_016878725.1:p.Arg707Cys | |
| NM_000243.3:c.2122C>T MANE Select | NP_000234.1:p.Arg708Cys | |
| NM_001198536.2:c.*326C>T | NP_001185465.2:n.*326C>T |