Linked Data
ClinVar Variation Id:
217509
ClinVar RCV Id:
RCV000201523
dbSNP Id:
rs863225124
PubMed:
PMID:26072516
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140676758C>A , CM000667.2:g.140676758C>A | GRCh38 |
| NC_000005.9:g.140056343C>A , CM000667.1:g.140056343C>A | GRCh37 |
| NC_000005.8:g.140036527C>A | NCBI36 |
| NG_032158.1:g.19629G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.748G>T | ENSP00000393244.2:p.Asp250Tyr | |
| ENST00000504156.7:c.1090G>T MANE Select | ENSP00000425634.1:p.Asp364Tyr | |
| ENST00000506579.6:n.2315G>T | ||
| ENST00000507746.7:c.1090G>T | ENSP00000425889.2:p.Asp364Tyr | |
| ENST00000509087.2:c.181-1625G>T | ENSP00000502781.1:n.181-1625G>T | |
| ENST00000512396.6:c.*1029G>T | ENSP00000421576.1:n.*1029G>T | |
| ENST00000643686.1:c.*1145G>T | ENSP00000493611.1:n.*1145G>T | |
| ENST00000645491.1:c.*1023G>T | ENSP00000494297.1:n.*1023G>T | |
| ENST00000646229.1:c.1141G>T | ||
| ENST00000674523.1:c.*380G>T | ENSP00000501816.1:n.*380G>T | |
| ENST00000675094.1:n.2187G>T | ||
| ENST00000675204.1:c.1090G>T | ENSP00000501643.1:p.Asp364Tyr | |
| ENST00000675355.1:n.875G>T | ||
| ENST00000675366.1:c.1090G>T | ENSP00000501747.1:p.Asp364Tyr | |
| ENST00000675698.1:c.883G>T | ENSP00000501581.1:p.Asp295Tyr | |
| ENST00000675763.1:n.2997G>T | ||
| ENST00000675827.1:c.*183G>T | ENSP00000501900.1:n.*183G>T | |
| ENST00000675851.1:c.760G>T | ENSP00000502624.1:p.Asp254Tyr | |
| ENST00000675898.1:n.2908G>T | ||
| ENST00000675967.1:n.2704G>T | ||
| ENST00000676327.1:c.982G>T | ENSP00000502594.1:p.Asp328Tyr | |
| ENST00000307633.7:c.910G>T | ENSP00000304668.3:p.Asp304Tyr | |
| ENST00000415192.6:c.868G>T | ENSP00000411085.2:p.Asp290Tyr | |
| ENST00000431330.6:c.748G>T | ENSP00000393244.2:p.Asp250Tyr | |
| ENST00000438307.6:c.970G>T | ENSP00000411511.2:p.Asp324Tyr | |
| ENST00000457527.6:c.1030G>T | ENSP00000387893.2:p.Asp344Tyr | |
| ENST00000504156.5:c.1090G>T | ENSP00000425634.1:p.Asp364Tyr | |
| ENST00000504366.5:c.883G>T | ENSP00000430063.1:p.Asp295Tyr | |
| ENST00000506579.5:n.2147G>T | ||
| ENST00000507746.5:c.760G>T | ENSP00000425889.1:p.Asp254Tyr | |
| NM_001258040.2:c.970G>T | NP_001244969.1:p.Asp324Tyr | |
| NM_001258041.2:c.1030G>T | NP_001244970.1:p.Asp344Tyr | |
| NM_001258042.2:c.910G>T | NP_001244971.1:p.Asp304Tyr | |
| NM_001289092.1:c.868G>T | NP_001276021.1:p.Asp290Tyr | |
| NM_001289093.1:c.748G>T | NP_001276022.1:p.Asp250Tyr | |
| NM_001289094.1:c.1003G>T | NP_001276023.1:p.Asp335Tyr | |
| NM_002109.5:c.1090G>T | NP_002100.2:p.Asp364Tyr | |
| NM_002109.6:c.1090G>T MANE Select | NP_002100.2:p.Asp364Tyr | |
| NM_001258040.3:c.970G>T | NP_001244969.1:p.Asp324Tyr | |
| NM_001258041.3:c.1030G>T | NP_001244970.1:p.Asp344Tyr | |
| NM_001258042.3:c.910G>T | NP_001244971.1:p.Asp304Tyr | |
| NM_001289092.2:c.868G>T | NP_001276021.1:p.Asp290Tyr | |
| NM_001289093.2:c.748G>T | NP_001276022.1:p.Asp250Tyr | |
| NM_001289094.2:c.1003G>T | NP_001276023.1:p.Asp335Tyr |