Linked Data
ClinVar Variation Id:
40380
dbSNP Id:
rs397507479
ERepo:
CA175337/MONDO:0021060/004
PubMed:
PMID:28135719
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.140777011C>T , CM000669.2:g.140777011C>T | GRCh38 |
| NC_000007.13:g.140476811C>T , CM000669.1:g.140476811C>T | GRCh37 |
| NC_000007.12:g.140123280C>T | NCBI36 |
| NG_007873.3:g.152754G>A , LRG_299:g.152754G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000646891.2:c.1595G>A MANE Select | ENSP00000493543.1:p.Cys532Tyr | |
| ENST00000288602.11:c.1715G>A | ENSP00000288602.7:p.Cys572Tyr | |
| ENST00000479537.6:c.265G>A | ||
| ENST00000496384.7:c.1595G>A | ENSP00000419060.2:p.Cys532Tyr | |
| ENST00000497784.2:c.*1045G>A | ENSP00000420119.2:n.*1045G>A | |
| ENST00000642228.1:c.*673G>A | ENSP00000493678.1:n.*673G>A | |
| ENST00000642875.1:n.1159G>A | ||
| ENST00000644120.1:n.1985G>A | ||
| ENST00000644650.1:c.691G>A | ||
| ENST00000644905.1:n.1684G>A | ||
| ENST00000644969.2:c.1715G>A MANE Plus Clinical | ENSP00000496776.1:p.Cys572Tyr | |
| ENST00000646730.1:c.1595G>A | ENSP00000494784.1:p.Cys532Tyr | |
| ENST00000646891.1:c.1595G>A | ENSP00000493543.1:p.Cys532Tyr | |
| ENST00000647434.1:c.638G>A | ENSP00000495132.1:p.Cys213Tyr | |
| ENST00000288602.10:c.1595G>A | ENSP00000288602.6:p.Cys532Tyr | |
| ENST00000496384.6:c.418G>A | ||
| ENST00000497784.1:c.1630G>A | ENSP00000420119.1:n.1630G>A | |
| NM_004333.4:c.1595G>A , LRG_299t1:c.1595G>A | NP_004324.2:p.Cys532Tyr | |
| XM_005250045.1:c.1595G>A | XP_005250102.1:p.Cys532Tyr | |
| XM_005250046.1:c.1595G>A | XP_005250103.1:p.Cys532Tyr | |
| XM_011516529.1:c.1595G>A | XP_011514831.1:p.Cys532Tyr | |
| XM_011516530.1:c.1595G>A | XP_011514832.1:p.Cys532Tyr | |
| XR_242190.1:n.1603G>A | ||
| XR_927520.1:n.1603G>A | ||
| XR_927521.1:n.1603G>A | ||
| XR_927522.1:n.1603G>A | ||
| XR_927523.1:n.1603G>A | ||
| NM_001354609.1:c.1595G>A | NP_001341538.1:p.Cys532Tyr | |
| NM_004333.5:c.1595G>A | NP_004324.2:p.Cys532Tyr | |
| NR_148928.1:n.1900G>A | ||
| XM_017012558.1:c.1715G>A | XP_016868047.1:p.Cys572Tyr | |
| XM_017012559.1:c.1715G>A | XP_016868048.1:p.Cys572Tyr | |
| XR_001744857.1:n.1723G>A | ||
| XR_001744858.1:n.1723G>A | ||
| NM_001354609.2:c.1595G>A | NP_001341538.1:p.Cys532Tyr | |
| NM_001374244.1:c.1715G>A | NP_001361173.1:p.Cys572Tyr | |
| NM_001374258.1:c.1715G>A MANE Plus Clinical | NP_001361187.1:p.Cys572Tyr | |
| NM_004333.6:c.1595G>A MANE Select | NP_004324.2:p.Cys532Tyr | |
| NM_001378467.1:c.1604G>A | NP_001365396.1:p.Cys535Tyr | |
| NM_001378468.1:c.1595G>A | NP_001365397.1:p.Cys532Tyr | |
| NM_001378469.1:c.1529G>A | NP_001365398.1:p.Cys510Tyr | |
| NM_001378470.1:c.1493G>A | NP_001365399.1:p.Cys498Tyr | |
| NM_001378471.1:c.1484G>A | NP_001365400.1:p.Cys495Tyr | |
| NM_001378472.1:c.1439G>A | NP_001365401.1:p.Cys480Tyr | |
| NM_001378473.1:c.1439G>A | NP_001365402.1:p.Cys480Tyr | |
| NM_001378474.1:c.1595G>A | NP_001365403.1:p.Cys532Tyr | |
| NM_001378475.1:c.1331G>A | NP_001365404.1:p.Cys444Tyr |