Linked Data
ClinVar Variation Id:
217506
dbSNP Id:
rs143473232
gnomAD v4:
5-140679789-G-A
PubMed:
PMID:26072516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140679789G>A , CM000667.2:g.140679789G>A | GRCh38 |
| NC_000005.9:g.140059374G>A , CM000667.1:g.140059374G>A | GRCh37 |
| NC_000005.8:g.140039558G>A | NCBI36 |
| NG_032158.1:g.16598C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.181-1774C>T | ENSP00000393244.2:n.181-1774C>T | |
| ENST00000504156.7:c.395C>T MANE Select | ENSP00000425634.1:p.Thr132Ile | |
| ENST00000506579.6:n.480C>T | ||
| ENST00000507746.7:c.395C>T | ENSP00000425889.2:p.Thr132Ile | |
| ENST00000509087.2:c.181-4656C>T | ENSP00000502781.1:n.181-4656C>T | |
| ENST00000512396.6:c.*334C>T | ENSP00000421576.1:n.*334C>T | |
| ENST00000518126.6:n.434C>T | ||
| ENST00000643686.1:c.*450C>T | ENSP00000493611.1:n.*450C>T | |
| ENST00000645491.1:c.*328C>T | ENSP00000494297.1:n.*328C>T | |
| ENST00000646229.1:c.446C>T | ||
| ENST00000674523.1:c.395C>T | ENSP00000501816.1:p.Thr132Ile | |
| ENST00000675094.1:n.480C>T | ||
| ENST00000675204.1:c.395C>T | ENSP00000501643.1:p.Thr132Ile | |
| ENST00000675355.1:n.240C>T | ||
| ENST00000675366.1:c.395C>T | ENSP00000501747.1:p.Thr132Ile | |
| ENST00000675698.1:c.188C>T | ENSP00000501581.1:p.Thr63Ile | |
| ENST00000675763.1:n.1316C>T | ||
| ENST00000675827.1:c.395C>T | ENSP00000501900.1:p.Thr132Ile | |
| ENST00000675851.1:c.301-2036C>T | ENSP00000502624.1:n.301-2036C>T | |
| ENST00000675898.1:n.567C>T | ||
| ENST00000675967.1:n.869C>T | ||
| ENST00000676327.1:c.395C>T | ENSP00000502594.1:p.Thr132Ile | |
| ENST00000307633.7:c.275C>T | ENSP00000304668.3:p.Thr92Ile | |
| ENST00000415192.6:c.301-1774C>T | ENSP00000411085.2:n.301-1774C>T | |
| ENST00000431330.6:c.181-1774C>T | ENSP00000393244.2:n.181-1774C>T | |
| ENST00000438307.6:c.275C>T | ENSP00000411511.2:p.Thr92Ile | |
| ENST00000457527.6:c.395C>T | ENSP00000387893.2:p.Thr132Ile | |
| ENST00000504156.5:c.395C>T | ENSP00000425634.1:p.Thr132Ile | |
| ENST00000504366.5:c.188C>T | ENSP00000430063.1:p.Thr63Ile | |
| ENST00000506579.5:n.312C>T | ||
| ENST00000507746.5:c.301-2036C>T | ENSP00000425889.1:n.301-2036C>T | |
| ENST00000512396.5:c.*334C>T | ENSP00000421576.1:n.*334C>T | |
| ENST00000518126.5:n.430C>T | ||
| NM_001258040.2:c.275C>T | NP_001244969.1:p.Thr92Ile | |
| NM_001258041.2:c.395C>T | NP_001244970.1:p.Thr132Ile | |
| NM_001258042.2:c.275C>T | NP_001244971.1:p.Thr92Ile | |
| NM_001289092.1:c.301-1774C>T | NP_001276021.1:n.301-1774C>T | |
| NM_001289093.1:c.181-1774C>T | NP_001276022.1:n.181-1774C>T | |
| NM_001289094.1:c.308C>T | NP_001276023.1:p.Thr103Ile | |
| NM_002109.5:c.395C>T | NP_002100.2:p.Thr132Ile | |
| NM_002109.6:c.395C>T MANE Select | NP_002100.2:p.Thr132Ile | |
| NM_001258040.3:c.275C>T | NP_001244969.1:p.Thr92Ile | |
| NM_001258041.3:c.395C>T | NP_001244970.1:p.Thr132Ile | |
| NM_001258042.3:c.275C>T | NP_001244971.1:p.Thr92Ile | |
| NM_001289092.2:c.301-1774C>T | NP_001276021.1:n.301-1774C>T | |
| NM_001289093.2:c.181-1774C>T | NP_001276022.1:n.181-1774C>T | |
| NM_001289094.2:c.308C>T | NP_001276023.1:p.Thr103Ile |