Linked Data
ClinVar Variation Id:
37055
ClinVar RCV Id:
RCV000030709
RCV000425047
RCV000431830
RCV000442854
RCV000443819
RCV000646119
RCV003315524
dbSNP Id:
rs387907272
ExAC:
3:38182641 T / C
gnomAD v2:
3-38182641-T-C
gnomAD v3:
3-38141150-T-C
gnomAD v4:
3-38141150-T-C
CIViC:
CA130043
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.38141150T>C , CM000665.2:g.38141150T>C | GRCh38 |
| NC_000003.11:g.38182641T>C , CM000665.1:g.38182641T>C | GRCh37 |
| NC_000003.10:g.38157645T>C | NCBI36 |
| NG_016964.1:g.7673T>C , LRG_157:g.7673T>C | |
| NG_023225.1:g.1093A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000463956.2:n.542T>C | ||
| ENST00000484513.2:n.2233T>C | ||
| ENST00000699084.1:n.1844T>C | ||
| ENST00000699085.1:n.1620T>C | ||
| ENST00000699086.1:c.536T>C | ||
| ENST00000396334.8:c.755T>C | ENSP00000379625.4:p.Leu252Pro | |
| ENST00000416282.3:n.858T>C | ||
| ENST00000417037.8:c.620T>C | ENSP00000401399.4:p.Leu207Pro | |
| ENST00000421516.3:c.779T>C | ENSP00000391753.3:p.Leu260Pro | |
| ENST00000650112.2:c.439T>C | ENSP00000497991.2:p.Ter147Arg | |
| ENST00000650905.2:c.755T>C MANE Select | ENSP00000498360.2:p.Leu252Pro | |
| ENST00000651800.2:c.574T>C | ENSP00000499012.2:p.Ter192Arg | |
| ENST00000652213.1:c.736T>C | ENSP00000498576.1:p.Ter246Arg | |
| ENST00000652590.1:n.983T>C | ||
| ENST00000396334.7:c.794T>C | ENSP00000379625.3:p.Leu265Pro | |
| ENST00000416282.2:n.858T>C | ||
| ENST00000417037.6:c.818T>C | ENSP00000401399.2:p.Leu273Pro | |
| ENST00000421516.1:c.815T>C | ENSP00000391753.1:p.Leu272Pro | |
| ENST00000424893.5:c.659T>C | ENSP00000389979.1:p.Leu220Pro | |
| ENST00000443433.6:c.613T>C | ENSP00000390565.2:p.Ter205Arg | |
| ENST00000463956.1:n.468T>C | ||
| ENST00000481122.5:n.548T>C | ||
| ENST00000484513.1:n.1445T>C | ||
| ENST00000495303.5:c.478T>C | ENSP00000417848.1:p.Ter160Arg | |
| NM_001172566.1:c.478T>C | NP_001166037.1:p.Ter160Arg | |
| NM_001172567.1:c.818T>C , LRG_157t1:c.818T>C | NP_001166038.1:p.Leu273Pro | |
| NM_001172568.1:c.659T>C | NP_001166039.1:p.Leu220Pro | |
| NM_001172569.1:c.613T>C | NP_001166040.1:p.Ter205Arg | |
| NM_002468.4:c.794T>C | NP_002459.2:p.Leu265Pro | |
| XM_005265172.1:c.775T>C | XP_005265229.1:p.Ter259Arg | |
| XM_006713170.1:c.640T>C | XP_006713233.1:p.Ter214Arg | |
| NM_001172566.2:c.439T>C | NP_001166037.2:p.Ter147Arg | |
| NM_001172567.2:c.779T>C | NP_001166038.2:p.Leu260Pro | |
| NM_001172568.2:c.620T>C | NP_001166039.2:p.Leu207Pro | |
| NM_001172569.2:c.574T>C | NP_001166040.2:p.Ter192Arg | |
| NM_001365876.1:c.736T>C | NP_001352805.1:p.Ter246Arg | |
| NM_001365877.1:c.601T>C | NP_001352806.1:p.Ter201Arg | |
| NM_002468.5:c.755T>C MANE Select | NP_002459.3:p.Leu252Pro | |
| NM_001172569.3:c.574T>C | NP_001166040.2:p.Ter192Arg | |
| NM_001374787.1:c.712T>C | NP_001361716.1:p.Ter238Arg | |
| NM_001374788.1:c.287T>C | NP_001361717.1:p.Leu96Pro | |
| NR_164663.1:n.438T>C |