Linked Data
ClinVar Variation Id:
1140714
ClinVar RCV Id:
RCV001477901
dbSNP Id:
rs1437902207
MyVariant Identifiers:
chr16:g.3293267G>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243267G>T , CM000678.2:g.3243267G>T | GRCh38 |
| NC_000016.9:g.3293267G>T , CM000678.1:g.3293267G>T | GRCh37 |
| NC_000016.8:g.3233268G>T | NCBI36 |
| NG_007871.1:g.18361C>A , LRG_190:g.18361C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1341C>A | ||
| ENST00000219596.6:c.2220C>A MANE Select | ENSP00000219596.1:p.Ile740= | |
| ENST00000219596.5:c.2220C>A | ENSP00000219596.1:p.Ile740= | |
| ENST00000339854.8:c.1680C>A | ENSP00000339639.4:p.Ile560= | |
| ENST00000536379.5:c.1587C>A | ENSP00000445079.1:p.Ile529= | |
| ENST00000536980.5:c.*496C>A | ENSP00000444178.1:n.*496C>A | |
| ENST00000537682.5:c.*496C>A | ENSP00000438611.1:n.*496C>A | |
| ENST00000538326.5:c.*845C>A | ENSP00000437486.1:n.*845C>A | |
| ENST00000539145.5:c.1141C>A | ENSP00000444471.1:n.1141C>A | |
| ENST00000541159.5:c.1762C>A | ENSP00000438711.1:n.1762C>A | |
| ENST00000542898.5:c.*496C>A | ENSP00000444615.1:n.*496C>A | |
| ENST00000570511.5:c.1625C>A | ENSP00000458312.1:n.1625C>A | |
| ENST00000572244.5:c.910C>A | ENSP00000461186.1:n.910C>A | |
| ENST00000574583.5:c.992C>A | ENSP00000460269.1:n.992C>A | |
| ENST00000576315.5:c.1025C>A | ENSP00000460551.1:n.1025C>A | |
| ENST00000621655.1:c.1757C>A | ENSP00000481436.1:n.1757C>A | |
| NM_000243.2:c.2220C>A , LRG_190t1:c.2220C>A | NP_000234.1:p.Ile740= | |
| NM_001198536.1:c.*424C>A | NP_001185465.1:n.*424C>A | |
| XM_017023236.2:c.2217C>A | XP_016878725.1:p.Ile739= | |
| NM_000243.3:c.2220C>A MANE Select | NP_000234.1:p.Ile740= | |
| NM_001198536.2:c.*424C>A | NP_001185465.2:n.*424C>A |