Linked Data
ClinVar Variation Id:
2539
dbSNP Id:
rs28940578
ExAC:
16:3293405 C / T
gnomAD v2:
16-3293405-C-T
gnomAD v3:
16-3243405-C-T
gnomAD v4:
16-3243405-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.3243405C>T , CM000678.2:g.3243405C>T | GRCh38 |
| NC_000016.9:g.3293405C>T , CM000678.1:g.3293405C>T | GRCh37 |
| NC_000016.8:g.3233406C>T | NCBI36 |
| NG_007871.1:g.18223G>A , LRG_190:g.18223G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000697124.1:n.1203G>A | ||
| ENST00000219596.6:c.2082G>A MANE Select | ENSP00000219596.1:p.Met694Ile | |
| ENST00000219596.5:c.2082G>A | ENSP00000219596.1:p.Met694Ile | |
| ENST00000339854.8:c.1542G>A | ENSP00000339639.4:p.Met514Ile | |
| ENST00000536379.5:c.1449G>A | ENSP00000445079.1:p.Met483Ile | |
| ENST00000536980.5:c.*358G>A | ENSP00000444178.1:n.*358G>A | |
| ENST00000537682.5:c.*358G>A | ENSP00000438611.1:n.*358G>A | |
| ENST00000538326.5:c.*707G>A | ENSP00000437486.1:n.*707G>A | |
| ENST00000539145.5:c.1003G>A | ENSP00000444471.1:n.1003G>A | |
| ENST00000541159.5:c.1624G>A | ENSP00000438711.1:n.1624G>A | |
| ENST00000542898.5:c.*358G>A | ENSP00000444615.1:n.*358G>A | |
| ENST00000570511.5:c.1487G>A | ENSP00000458312.1:n.1487G>A | |
| ENST00000572244.5:c.772G>A | ENSP00000461186.1:n.772G>A | |
| ENST00000574583.5:c.854G>A | ENSP00000460269.1:n.854G>A | |
| ENST00000576315.5:c.887G>A | ENSP00000460551.1:n.887G>A | |
| ENST00000621655.1:c.1619G>A | ENSP00000481436.1:n.1619G>A | |
| NM_000243.2:c.2082G>A , LRG_190t1:c.2082G>A | NP_000234.1:p.Met694Ile | |
| NM_001198536.1:c.*286G>A | NP_001185465.1:n.*286G>A | |
| XM_017023236.2:c.2079G>A | XP_016878725.1:p.Met693Ile | |
| NM_000243.3:c.2082G>A MANE Select | NP_000234.1:p.Met694Ile | |
| NM_001198536.2:c.*286G>A | NP_001185465.2:n.*286G>A |