Linked Data
ClinVar Variation Id:
97501
dbSNP Id:
rs104895117
gnomAD v2:
16-3293318-G-A
gnomAD v3:
16-3243318-G-A
gnomAD v4:
16-3243318-G-A
COSMIC:
COSM5384834
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243318G>A , CM000678.2:g.3243318G>A | GRCh38 |
| NC_000016.9:g.3293318G>A , CM000678.1:g.3293318G>A | GRCh37 |
| NC_000016.8:g.3233319G>A | NCBI36 |
| NG_007871.1:g.18310C>T , LRG_190:g.18310C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1290C>T | ||
| ENST00000219596.6:c.2169C>T MANE Select | ENSP00000219596.1:p.Asp723= | |
| ENST00000219596.5:c.2169C>T | ENSP00000219596.1:p.Asp723= | |
| ENST00000339854.8:c.1629C>T | ENSP00000339639.4:p.Asp543= | |
| ENST00000536379.5:c.1536C>T | ENSP00000445079.1:p.Asp512= | |
| ENST00000536980.5:c.*445C>T | ENSP00000444178.1:n.*445C>T | |
| ENST00000537682.5:c.*445C>T | ENSP00000438611.1:n.*445C>T | |
| ENST00000538326.5:c.*794C>T | ENSP00000437486.1:n.*794C>T | |
| ENST00000539145.5:c.1090C>T | ENSP00000444471.1:n.1090C>T | |
| ENST00000541159.5:c.1711C>T | ENSP00000438711.1:n.1711C>T | |
| ENST00000542898.5:c.*445C>T | ENSP00000444615.1:n.*445C>T | |
| ENST00000570511.5:c.1574C>T | ENSP00000458312.1:n.1574C>T | |
| ENST00000572244.5:c.859C>T | ENSP00000461186.1:n.859C>T | |
| ENST00000574583.5:c.941C>T | ENSP00000460269.1:n.941C>T | |
| ENST00000576315.5:c.974C>T | ENSP00000460551.1:n.974C>T | |
| ENST00000621655.1:c.1706C>T | ENSP00000481436.1:n.1706C>T | |
| NM_000243.2:c.2169C>T , LRG_190t1:c.2169C>T | NP_000234.1:p.Asp723= | |
| NM_001198536.1:c.*373C>T | NP_001185465.1:n.*373C>T | |
| XM_017023236.2:c.2166C>T | XP_016878725.1:p.Asp722= | |
| NM_000243.3:c.2169C>T MANE Select | NP_000234.1:p.Asp723= | |
| NM_001198536.2:c.*373C>T | NP_001185465.2:n.*373C>T |