Linked Data
ClinVar Variation Id:
229263
dbSNP Id:
rs199898869
ExAC:
2:39281888 G / A
gnomAD v2:
2-39281888-G-A
gnomAD v3:
2-39054747-G-A
gnomAD v4:
2-39054747-G-A
COSMIC:
COSM6454755
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39054747G>A , CM000664.2:g.39054747G>A | GRCh38 |
| NC_000002.11:g.39281888G>A , CM000664.1:g.39281888G>A | GRCh37 |
| NC_000002.10:g.39135392G>A | NCBI36 |
| NG_007530.1:g.70717C>T , LRG_754:g.70717C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000461545.2:n.614C>T | ||
| ENST00000685782.1:n.1425C>T | ||
| ENST00000688189.1:n.352C>T | ||
| ENST00000689668.1:n.594C>T | ||
| ENST00000690679.1:c.687C>T | ||
| ENST00000690876.1:c.587C>T | ENSP00000508955.1:p.Ser196Leu | |
| ENST00000691229.1:c.587C>T | ENSP00000510437.1:p.Ser196Leu | |
| ENST00000692089.1:c.587C>T | ENSP00000508626.1:p.Ser196Leu | |
| ENST00000402219.8:c.587C>T MANE Select | ENSP00000384675.2:p.Ser196Leu | |
| ENST00000395038.6:c.587C>T | ENSP00000378479.2:p.Ser196Leu | |
| ENST00000402219.6:c.587C>T | ENSP00000384675.2:p.Ser196Leu | |
| ENST00000426016.5:c.587C>T | ENSP00000387784.1:p.Ser196Leu | |
| NM_005633.3:c.587C>T , LRG_754t1:c.587C>T | NP_005624.2:p.Ser196Leu | |
| XM_005264515.3:c.587C>T | XP_005264572.1:p.Ser196Leu | |
| XM_011533060.1:c.680C>T | XP_011531362.1:p.Ser227Leu | |
| XM_011533061.1:c.680C>T | XP_011531363.1:p.Ser227Leu | |
| XM_011533062.1:c.566C>T | XP_011531364.1:p.Ser189Leu | |
| XM_011533063.1:c.563C>T | XP_011531365.1:p.Ser188Leu | |
| XM_011533064.1:c.416C>T | XP_011531366.1:p.Ser139Leu | |
| XM_011533065.1:c.680C>T | XP_011531367.1:p.Ser227Leu | |
| XM_005264515.4:c.587C>T | XP_005264572.1:p.Ser196Leu | |
| XM_011533062.2:c.566C>T | XP_011531364.1:p.Ser189Leu | |
| XM_011533064.2:c.416C>T | XP_011531366.1:p.Ser139Leu | |
| NM_001382394.1:c.566C>T | NP_001369323.1:p.Ser189Leu | |
| NM_001382395.1:c.587C>T | NP_001369324.1:p.Ser196Leu | |
| NM_005633.4:c.587C>T MANE Select | NP_005624.2:p.Ser196Leu |