Linked Data
ClinVar Variation Id:
458000
dbSNP Id:
rs11466047
ExAC:
16:3293324 G / A
gnomAD v2:
16-3293324-G-A
gnomAD v3:
16-3243324-G-A
gnomAD v4:
16-3243324-G-A
COSMIC:
COSM261962
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243324G>A , CM000678.2:g.3243324G>A | GRCh38 |
| NC_000016.9:g.3293324G>A , CM000678.1:g.3293324G>A | GRCh37 |
| NC_000016.8:g.3233325G>A | NCBI36 |
| NG_007871.1:g.18304C>T , LRG_190:g.18304C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000697124.1:n.1284C>T | ||
| ENST00000219596.6:c.2163C>T MANE Select | ENSP00000219596.1:p.Phe721= | |
| ENST00000219596.5:c.2163C>T | ENSP00000219596.1:p.Phe721= | |
| ENST00000339854.8:c.1623C>T | ENSP00000339639.4:p.Phe541= | |
| ENST00000536379.5:c.1530C>T | ENSP00000445079.1:p.Phe510= | |
| ENST00000536980.5:c.*439C>T | ENSP00000444178.1:n.*439C>T | |
| ENST00000537682.5:c.*439C>T | ENSP00000438611.1:n.*439C>T | |
| ENST00000538326.5:c.*788C>T | ENSP00000437486.1:n.*788C>T | |
| ENST00000539145.5:c.1084C>T | ENSP00000444471.1:n.1084C>T | |
| ENST00000541159.5:c.1705C>T | ENSP00000438711.1:n.1705C>T | |
| ENST00000542898.5:c.*439C>T | ENSP00000444615.1:n.*439C>T | |
| ENST00000570511.5:c.1568C>T | ENSP00000458312.1:n.1568C>T | |
| ENST00000572244.5:c.853C>T | ENSP00000461186.1:n.853C>T | |
| ENST00000574583.5:c.935C>T | ENSP00000460269.1:n.935C>T | |
| ENST00000576315.5:c.968C>T | ENSP00000460551.1:n.968C>T | |
| ENST00000621655.1:c.1700C>T | ENSP00000481436.1:n.1700C>T | |
| NM_000243.2:c.2163C>T , LRG_190t1:c.2163C>T | NP_000234.1:p.Phe721= | |
| NM_001198536.1:c.*367C>T | NP_001185465.1:n.*367C>T | |
| XM_017023236.2:c.2160C>T | XP_016878725.1:p.Phe720= | |
| NM_000243.3:c.2163C>T MANE Select | NP_000234.1:p.Phe721= | |
| NM_001198536.2:c.*367C>T | NP_001185465.2:n.*367C>T |