Linked Data
ClinVar Variation Id:
310139
dbSNP Id:
rs375712066
ExAC:
12:6463665 G / A
gnomAD v2:
12-6463665-G-A
gnomAD v3:
12-6354499-G-A
gnomAD v4:
12-6354499-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.6354499G>A , CM000674.2:g.6354499G>A | GRCh38 |
| NC_000012.11:g.6463665G>A , CM000674.1:g.6463665G>A | GRCh37 |
| NC_000012.10:g.6333926G>A | NCBI36 |
| NG_011945.1:g.27859C>T | |
| NG_011945.2:g.27859C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228916.7:c.1299C>T MANE Select | ENSP00000228916.2:p.Tyr433= | |
| ENST00000228916.6:c.1299C>T | ENSP00000228916.2:p.Tyr433= | |
| ENST00000338748.9:c.*370C>T | ENSP00000345028.5:n.*370C>T | |
| ENST00000360168.7:c.1476C>T | ENSP00000353292.3:p.Tyr492= | |
| ENST00000366131.6:n.321C>T | ||
| ENST00000396966.6:c.1299C>T | ENSP00000380166.2:p.Tyr433= | |
| ENST00000457871.2:n.51C>T | ||
| ENST00000538979.5:n.708C>T | ||
| ENST00000539030.5:n.221C>T | ||
| ENST00000540037.5:c.399C>T | ENSP00000440876.1:p.Tyr133= | |
| ENST00000543768.1:c.1368C>T | ENSP00000438739.1:p.Tyr456= | |
| NM_001038.5:c.1299C>T | NP_001029.1:p.Tyr433= | |
| NM_001159575.1:c.1368C>T | NP_001153047.1:p.Tyr456= | |
| NM_001159576.1:c.1476C>T | NP_001153048.1:p.Tyr492= | |
| XR_001748984.1:n.554-1026G>A | ||
| NM_001038.6:c.1299C>T MANE Select | NP_001029.1:p.Tyr433= | |
| NM_001159576.2:c.1476C>T | NP_001153048.1:p.Tyr492= | |
| NM_001159575.2:c.1368C>T | NP_001153047.1:p.Tyr456= |