Linked Data
ClinVar Variation Id:
1335590
ClinVar RCV Id:
RCV001816401
dbSNP Id:
rs2126702555
gnomAD v4:
5-119478857-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119478857C>T , CM000667.2:g.119478857C>T | GRCh38 |
| NC_000005.9:g.118814552C>T , CM000667.1:g.118814552C>T | GRCh37 |
| NC_000005.8:g.118842451C>T | NCBI36 |
| NG_008182.1:g.31405C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.458C>T | ENSP00000426272.2:p.Ser153Leu | |
| ENST00000518349.6:c.113-17686C>T | ENSP00000507185.1:n.113-17686C>T | |
| ENST00000682445.1:c.*339C>T | ENSP00000508061.1:n.*339C>T | |
| ENST00000682531.1:n.559C>T | ||
| ENST00000682626.1:c.486C>T | ENSP00000507857.1:p.Phe162= | |
| ENST00000682996.1:c.458C>T | ENSP00000507792.1:p.Ser153Leu | |
| ENST00000683265.1:n.551C>T | ||
| ENST00000683371.1:c.*588C>T | ENSP00000508376.1:n.*588C>T | |
| ENST00000683390.1:n.2148C>T | ||
| ENST00000683549.1:n.379C>T | ||
| ENST00000683936.1:c.*343C>T | ENSP00000507721.1:n.*343C>T | |
| ENST00000683974.1:n.540C>T | ||
| ENST00000683996.1:c.47C>T | ENSP00000507060.1:p.Ser16Leu | |
| ENST00000684131.1:n.297C>T | ||
| ENST00000684160.1:c.*148C>T | ENSP00000507821.1:n.*148C>T | |
| ENST00000684214.1:c.458C>T | ENSP00000508071.1:p.Ser153Leu | |
| ENST00000414835.7:c.533C>T | ENSP00000411960.3:p.Ser178Leu | |
| ENST00000510025.7:c.458C>T MANE Select | ENSP00000424940.3:p.Ser153Leu | |
| ENST00000643250.1:c.*330C>T | ENSP00000494737.1:n.*330C>T | |
| ENST00000644146.1:c.*36C>T | ENSP00000494808.1:n.*36C>T | |
| ENST00000645099.1:c.17C>T | ENSP00000496091.1:p.Ser6Leu | |
| ENST00000645702.1:c.47C>T | ENSP00000496432.1:p.Ser16Leu | |
| ENST00000645832.1:c.*343C>T | ENSP00000494316.1:n.*343C>T | |
| ENST00000646058.1:c.458C>T | ENSP00000493579.1:p.Ser153Leu | |
| ENST00000646355.1:c.*464C>T | ENSP00000493801.1:n.*464C>T | |
| ENST00000646554.1:c.*436C>T | ENSP00000494542.1:n.*436C>T | |
| ENST00000646590.1:c.449C>T | ENSP00000494892.1:p.Ser150Leu | |
| ENST00000647335.1:c.*425C>T | ENSP00000495180.1:n.*425C>T | |
| ENST00000647342.1:c.*389C>T | ENSP00000494992.1:n.*389C>T | |
| ENST00000256216.10:c.458C>T | ENSP00000256216.6:p.Ser153Leu | |
| ENST00000414835.6:c.38C>T | ENSP00000411960.2:p.Ser13Leu | |
| ENST00000442060.7:c.458C>T | ENSP00000390208.3:p.Ser153Leu | |
| ENST00000503168.5:n.447C>T | ||
| ENST00000504811.5:c.533C>T | ENSP00000420914.1:p.Ser178Leu | |
| ENST00000505181.5:n.161C>T | ||
| ENST00000508788.5:n.360C>T | ||
| ENST00000509514.5:c.-427C>T | ENSP00000426272.1:n.-427C>T | |
| ENST00000510025.5:c.386C>T | ENSP00000424940.1:p.Ser129Leu | |
| ENST00000512644.1:n.26C>T | ||
| ENST00000512841.5:n.506C>T | ||
| ENST00000513628.5:c.47C>T | ENSP00000425993.1:p.Ser16Leu | |
| ENST00000515235.6:n.518C>T | ||
| ENST00000515320.5:c.404C>T | ENSP00000424613.1:p.Ser135Leu | |
| NM_000414.3:c.458C>T | NP_000405.1:p.Ser153Leu | |
| NM_001199291.2:c.533C>T | NP_001186220.1:p.Ser178Leu | |
| NM_001199292.1:c.404C>T | NP_001186221.1:p.Ser135Leu | |
| NM_001292027.1:c.386C>T | NP_001278956.1:p.Ser129Leu | |
| NM_001292028.1:c.38C>T | NP_001278957.1:p.Ser13Leu | |
| NM_000414.4:c.458C>T MANE Select | NP_000405.1:p.Ser153Leu | |
| NM_001199291.3:c.533C>T | NP_001186220.1:p.Ser178Leu | |
| NM_001199292.2:c.404C>T | NP_001186221.1:p.Ser135Leu | |
| NM_001292027.2:c.386C>T | NP_001278956.1:p.Ser129Leu | |
| NM_001292028.2:c.38C>T | NP_001278957.1:p.Ser13Leu | |
| NM_001374497.1:c.449C>T | NP_001361426.1:p.Ser150Leu | |
| NM_001374498.1:c.458C>T | NP_001361427.1:p.Ser153Leu | |
| NM_001374499.1:c.131C>T | NP_001361428.1:p.Ser44Leu | |
| NM_001374500.1:c.17C>T | NP_001361429.1:p.Ser6Leu | |
| NM_001374501.1:c.47C>T | NP_001361430.1:p.Ser16Leu | |
| NM_001374502.1:c.47C>T | NP_001361431.1:p.Ser16Leu | |
| NM_001374503.1:c.47C>T | NP_001361432.1:p.Ser16Leu | |
| NR_164653.1:n.537C>T | ||
| NR_164654.1:n.725C>T |