Linked Data
ClinVar Variation Id:
446299
dbSNP Id:
rs1239341211
gnomAD v2:
5-140058645-A-C
gnomAD v4:
5-140679060-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140679060A>C , CM000667.2:g.140679060A>C | GRCh38 |
| NC_000005.9:g.140058645A>C , CM000667.1:g.140058645A>C | GRCh37 |
| NC_000005.8:g.140038829A>C | NCBI36 |
| NG_032158.1:g.17327T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.181-1045T>G | ENSP00000393244.2:n.181-1045T>G | |
| ENST00000504156.7:c.464T>G MANE Select | ENSP00000425634.1:p.Val155Gly | |
| ENST00000506579.6:n.549T>G | ||
| ENST00000507746.7:c.464T>G | ENSP00000425889.2:p.Val155Gly | |
| ENST00000509087.2:c.181-3927T>G | ENSP00000502781.1:n.181-3927T>G | |
| ENST00000512396.6:c.*403T>G | ENSP00000421576.1:n.*403T>G | |
| ENST00000643686.1:c.*519T>G | ENSP00000493611.1:n.*519T>G | |
| ENST00000645491.1:c.*397T>G | ENSP00000494297.1:n.*397T>G | |
| ENST00000646229.1:c.515T>G | ||
| ENST00000674523.1:c.464T>G | ENSP00000501816.1:p.Val155Gly | |
| ENST00000675094.1:n.549T>G | ||
| ENST00000675204.1:c.464T>G | ENSP00000501643.1:p.Val155Gly | |
| ENST00000675355.1:n.307+2T>G | ||
| ENST00000675366.1:c.464T>G | ENSP00000501747.1:p.Val155Gly | |
| ENST00000675698.1:c.257T>G | ENSP00000501581.1:p.Val86Gly | |
| ENST00000675763.1:n.1385T>G | ||
| ENST00000675827.1:c.464T>G | ENSP00000501900.1:p.Val155Gly | |
| ENST00000675851.1:c.301-1307T>G | ENSP00000502624.1:n.301-1307T>G | |
| ENST00000675898.1:n.1296T>G | ||
| ENST00000675967.1:n.938T>G | ||
| ENST00000676327.1:c.464T>G | ENSP00000502594.1:p.Val155Gly | |
| ENST00000307633.7:c.342+2T>G | ENSP00000304668.3:n.342+2T>G | |
| ENST00000415192.6:c.301-1045T>G | ENSP00000411085.2:n.301-1045T>G | |
| ENST00000431330.6:c.181-1045T>G | ENSP00000393244.2:n.181-1045T>G | |
| ENST00000438307.6:c.344T>G | ENSP00000411511.2:p.Val115Gly | |
| ENST00000457527.6:c.462+2T>G | ENSP00000387893.2:n.462+2T>G | |
| ENST00000504156.5:c.464T>G | ENSP00000425634.1:p.Val155Gly | |
| ENST00000504366.5:c.257T>G | ENSP00000430063.1:p.Val86Gly | |
| ENST00000506579.5:n.381T>G | ||
| ENST00000507746.5:c.301-1307T>G | ENSP00000425889.1:n.301-1307T>G | |
| NM_001258040.2:c.344T>G | NP_001244969.1:p.Val115Gly | |
| NM_001258041.2:c.462+2T>G | NP_001244970.1:n.462+2T>G | |
| NM_001258042.2:c.342+2T>G | NP_001244971.1:n.342+2T>G | |
| NM_001289092.1:c.301-1045T>G | NP_001276021.1:n.301-1045T>G | |
| NM_001289093.1:c.181-1045T>G | NP_001276022.1:n.181-1045T>G | |
| NM_001289094.1:c.377T>G | NP_001276023.1:p.Val126Gly | |
| NM_002109.5:c.464T>G | NP_002100.2:p.Val155Gly | |
| NM_002109.6:c.464T>G MANE Select | NP_002100.2:p.Val155Gly | |
| NM_001258040.3:c.344T>G | NP_001244969.1:p.Val115Gly | |
| NM_001258041.3:c.462+2T>G | NP_001244970.1:n.462+2T>G | |
| NM_001258042.3:c.342+2T>G | NP_001244971.1:n.342+2T>G | |
| NM_001289092.2:c.301-1045T>G | NP_001276021.1:n.301-1045T>G | |
| NM_001289093.2:c.181-1045T>G | NP_001276022.1:n.181-1045T>G | |
| NM_001289094.2:c.377T>G | NP_001276023.1:p.Val126Gly |