Linked Data
ClinVar Variation Id:
137616
dbSNP Id:
rs587777442
ExAC:
5:118792052 C / T
gnomAD v2:
5-118792052-C-T
gnomAD v4:
5-119456357-C-T
PubMed:
PMID:23181892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.119456357C>T , CM000667.2:g.119456357C>T | GRCh38 |
| NC_000005.9:g.118792052C>T , CM000667.1:g.118792052C>T | GRCh37 |
| NC_000005.8:g.118819951C>T | NCBI36 |
| NG_008182.1:g.8905C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000509514.6:c.101C>T | ENSP00000426272.2:p.Ala34Val | |
| ENST00000512841.6:n.142C>T | ||
| ENST00000518349.6:c.101C>T | ENSP00000507185.1:p.Ala34Val | |
| ENST00000682445.1:c.101C>T | ENSP00000508061.1:p.Ala34Val | |
| ENST00000682531.1:n.137C>T | ||
| ENST00000682626.1:c.111C>T | ENSP00000507857.1:p.Ser37= | |
| ENST00000682996.1:c.101C>T | ENSP00000507792.1:p.Ala34Val | |
| ENST00000683265.1:n.129C>T | ||
| ENST00000683371.1:c.101C>T | ENSP00000508376.1:p.Ala34Val | |
| ENST00000683390.1:n.149C>T | ||
| ENST00000683936.1:c.101C>T | ENSP00000507721.1:p.Ala34Val | |
| ENST00000683974.1:n.183C>T | ||
| ENST00000684160.1:c.111C>T | ENSP00000507821.1:p.Ser37= | |
| ENST00000684214.1:c.101C>T | ENSP00000508071.1:p.Ala34Val | |
| ENST00000414835.7:c.111C>T | ENSP00000411960.3:p.Ser37= | |
| ENST00000510025.7:c.101C>T MANE Select | ENSP00000424940.3:p.Ala34Val | |
| ENST00000643250.1:c.111C>T | ENSP00000494737.1:p.Ser37= | |
| ENST00000644146.1:c.101C>T | ENSP00000494808.1:p.Ala34Val | |
| ENST00000645832.1:c.101C>T | ENSP00000494316.1:p.Ala34Val | |
| ENST00000646058.1:c.101C>T | ENSP00000493579.1:p.Ala34Val | |
| ENST00000646355.1:c.111C>T | ENSP00000493801.1:p.Ser37= | |
| ENST00000646554.1:c.111C>T | ENSP00000494542.1:p.Ser37= | |
| ENST00000646590.1:c.101C>T | ENSP00000494892.1:p.Ala34Val | |
| ENST00000647335.1:c.111C>T | ENSP00000495180.1:p.Ser37= | |
| ENST00000647342.1:c.111C>T | ENSP00000494992.1:p.Ser37= | |
| ENST00000256216.10:c.101C>T | ENSP00000256216.6:p.Ala34Val | |
| ENST00000414835.6:c.-311C>T | ENSP00000411960.2:n.-311C>T | |
| ENST00000442060.7:c.101C>T | ENSP00000390208.3:p.Ala34Val | |
| ENST00000503168.5:n.90C>T | ||
| ENST00000504811.5:c.111C>T | ENSP00000420914.1:p.Ser37= | |
| ENST00000507695.1:n.45C>T | ||
| ENST00000508750.1:n.99C>T | ||
| ENST00000510025.5:c.-37C>T | ENSP00000424940.1:n.-37C>T | |
| ENST00000511186.5:n.204C>T | ||
| ENST00000512841.5:n.149C>T | ||
| ENST00000515235.6:n.161C>T | ||
| ENST00000515320.5:c.58+3724C>T | ENSP00000424613.1:n.58+3724C>T | |
| ENST00000519184.5:n.112C>T | ||
| NM_000414.3:c.101C>T | NP_000405.1:p.Ala34Val | |
| NM_001199291.2:c.111C>T | NP_001186220.1:p.Ser37= | |
| NM_001199292.1:c.58+3724C>T | NP_001186221.1:n.58+3724C>T | |
| NM_001292027.1:c.-37C>T | NP_001278956.1:n.-37C>T | |
| NM_001292028.1:c.-311C>T | NP_001278957.1:n.-311C>T | |
| NM_000414.4:c.101C>T MANE Select | NP_000405.1:p.Ala34Val | |
| NM_001199291.3:c.111C>T | NP_001186220.1:p.Ser37= | |
| NM_001199292.2:c.58+3724C>T | NP_001186221.1:n.58+3724C>T | |
| NM_001292027.2:c.-37C>T | NP_001278956.1:n.-37C>T | |
| NM_001292028.2:c.-311C>T | NP_001278957.1:n.-311C>T | |
| NM_001374497.1:c.101C>T | NP_001361426.1:p.Ala34Val | |
| NM_001374498.1:c.101C>T | NP_001361427.1:p.Ala34Val | |
| NM_001374499.1:c.-245C>T | NP_001361428.1:n.-245C>T | |
| NM_001374500.1:c.-438C>T | NP_001361429.1:n.-438C>T | |
| NM_001374501.1:c.-311C>T | NP_001361430.1:n.-311C>T | |
| NM_001374502.1:c.-316C>T | NP_001361431.1:n.-316C>T | |
| NM_001374503.1:c.-381C>T | NP_001361432.1:n.-381C>T | |
| NR_164653.1:n.180C>T | ||
| NR_164654.1:n.368C>T |