Linked Data
ClinVar Variation Id:
36508
dbSNP Id:
rs2234939
ExAC:
16:3293369 C / T
gnomAD v2:
16-3293369-C-T
gnomAD v3:
16-3243369-C-T
gnomAD v4:
16-3243369-C-T
PubMed:
PMID:21413889
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243369C>T , CM000678.2:g.3243369C>T | GRCh38 |
| NC_000016.9:g.3293369C>T , CM000678.1:g.3293369C>T | GRCh37 |
| NC_000016.8:g.3233370C>T | NCBI36 |
| NG_007871.1:g.18259G>A , LRG_190:g.18259G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1239G>A | ||
| ENST00000219596.6:c.2118G>A MANE Select | ENSP00000219596.1:p.Pro706= | |
| ENST00000219596.5:c.2118G>A | ENSP00000219596.1:p.Pro706= | |
| ENST00000339854.8:c.1578G>A | ENSP00000339639.4:p.Pro526= | |
| ENST00000536379.5:c.1485G>A | ENSP00000445079.1:p.Pro495= | |
| ENST00000536980.5:c.*394G>A | ENSP00000444178.1:n.*394G>A | |
| ENST00000537682.5:c.*394G>A | ENSP00000438611.1:n.*394G>A | |
| ENST00000538326.5:c.*743G>A | ENSP00000437486.1:n.*743G>A | |
| ENST00000539145.5:c.1039G>A | ENSP00000444471.1:n.1039G>A | |
| ENST00000541159.5:c.1660G>A | ENSP00000438711.1:n.1660G>A | |
| ENST00000542898.5:c.*394G>A | ENSP00000444615.1:n.*394G>A | |
| ENST00000570511.5:c.1523G>A | ENSP00000458312.1:n.1523G>A | |
| ENST00000572244.5:c.808G>A | ENSP00000461186.1:n.808G>A | |
| ENST00000574583.5:c.890G>A | ENSP00000460269.1:n.890G>A | |
| ENST00000576315.5:c.923G>A | ENSP00000460551.1:n.923G>A | |
| ENST00000621655.1:c.1655G>A | ENSP00000481436.1:n.1655G>A | |
| NM_000243.2:c.2118G>A , LRG_190t1:c.2118G>A | NP_000234.1:p.Pro706= | |
| NM_001198536.1:c.*322G>A | NP_001185465.1:n.*322G>A | |
| XM_017023236.2:c.2115G>A | XP_016878725.1:p.Pro705= | |
| NM_000243.3:c.2118G>A MANE Select | NP_000234.1:p.Pro706= | |
| NM_001198536.2:c.*322G>A | NP_001185465.2:n.*322G>A |