Linked Data
ClinVar Variation Id:
1405870
ClinVar RCV Id:
RCV001906746
dbSNP Id:
rs201360189
ExAC:
12:110028578 C / T
gnomAD v2:
12-110028578-C-T
gnomAD v3:
12-109590773-C-T
gnomAD v4:
12-109590773-C-T
COSMIC:
COSM6280777
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.109590773C>T , CM000674.2:g.109590773C>T | GRCh38 |
| NC_000012.11:g.110028578C>T , CM000674.1:g.110028578C>T | GRCh37 |
| NC_000012.10:g.108512961C>T | NCBI36 |
| NG_007702.1:g.22079C>T , LRG_156:g.22079C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000539696.6:c.-91-73C>T | ENSP00000439134.1:n.-91-73C>T | |
| ENST00000546277.6:c.680C>T | ENSP00000438153.2:p.Ser227Leu | |
| ENST00000636529.2:n.319C>T | ||
| ENST00000697195.1:c.*444C>T | ENSP00000513181.1:n.*444C>T | |
| ENST00000697196.1:c.768C>T | ENSP00000513182.1:p.Val256= | |
| ENST00000697197.1:n.2330C>T | ||
| ENST00000228510.8:c.680C>T MANE Select | ENSP00000228510.3:p.Ser227Leu | |
| ENST00000636529.1:c.305C>T | ||
| ENST00000636996.1:c.528C>T | ||
| ENST00000228510.7:c.680C>T | ENSP00000228510.3:p.Ser227Leu | |
| ENST00000392727.7:c.524C>T | ENSP00000376487.3:p.Ser175Leu | |
| ENST00000447878.6:c.*127C>T | ENSP00000415555.2:n.*127C>T | |
| ENST00000537237.5:c.*442-468C>T | ENSP00000445382.1:n.*442-468C>T | |
| ENST00000539575.4:c.680C>T | ENSP00000443551.2:p.Ser227Leu | |
| ENST00000539696.5:c.-91-73C>T | ENSP00000439134.1:n.-91-73C>T | |
| ENST00000540353.1:n.2913C>T | ||
| ENST00000625889.2:c.524C>T | ENSP00000486846.1:p.Ser175Leu | |
| ENST00000629016.2:c.*127C>T | ENSP00000486804.1:n.*127C>T | |
| NM_000431.3:c.680C>T | NP_000422.1:p.Ser227Leu | |
| NM_001114185.2:c.680C>T | NP_001107657.1:p.Ser227Leu | |
| NM_001301182.1:c.524C>T | NP_001288111.1:p.Ser175Leu | |
| XM_011538372.1:c.680C>T | XP_011536674.1:p.Ser227Leu | |
| XM_017019313.2:c.524C>T | XP_016874802.1:p.Ser175Leu | |
| XM_017019314.1:c.680C>T | XP_016874803.1:p.Ser227Leu | |
| XM_024448982.1:c.680C>T | XP_024304750.1:p.Ser227Leu | |
| NM_000431.4:c.680C>T MANE Select | NP_000422.1:p.Ser227Leu | |
| NM_001114185.3:c.680C>T | NP_001107657.1:p.Ser227Leu | |
| NM_001301182.2:c.524C>T | NP_001288111.1:p.Ser175Leu |