Linked Data
ClinVar Variation Id:
472991
dbSNP Id:
rs78741041
ExAC:
5:140070876 G / T
gnomAD v2:
5-140070876-G-T
gnomAD v3:
5-140691291-G-T
gnomAD v4:
5-140691291-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.140691291G>T , CM000667.2:g.140691291G>T | GRCh38 |
| NC_000005.9:g.140070876G>T , CM000667.1:g.140070876G>T | GRCh37 |
| NC_000005.8:g.140051060G>T | NCBI36 |
| NG_021415.1:g.4859G>T | |
| NG_032158.1:g.5096C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000431330.7:c.14C>A | ENSP00000393244.2:p.Ala5Glu | |
| ENST00000502888.2:n.63C>A | ||
| ENST00000504156.7:c.14C>A MANE Select | ENSP00000425634.1:p.Ala5Glu | |
| ENST00000506579.6:n.99C>A | ||
| ENST00000507746.7:c.14C>A | ENSP00000425889.2:p.Ala5Glu | |
| ENST00000509087.2:c.14C>A | ENSP00000502781.1:p.Ala5Glu | |
| ENST00000512396.6:c.14C>A | ENSP00000421576.1:p.Ala5Glu | |
| ENST00000518126.6:n.53C>A | ||
| ENST00000643686.1:c.14C>A | ENSP00000493611.1:p.Ala5Glu | |
| ENST00000645491.1:c.14C>A | ENSP00000494297.1:p.Ala5Glu | |
| ENST00000674523.1:c.14C>A | ENSP00000501816.1:p.Ala5Glu | |
| ENST00000674721.1:n.115C>A | ||
| ENST00000674819.1:n.87C>A | ||
| ENST00000675094.1:n.99C>A | ||
| ENST00000675204.1:c.14C>A | ENSP00000501643.1:p.Ala5Glu | |
| ENST00000675366.1:c.14C>A | ENSP00000501747.1:p.Ala5Glu | |
| ENST00000675698.1:c.3+11C>A | ENSP00000501581.1:n.3+11C>A | |
| ENST00000675827.1:c.14C>A | ENSP00000501900.1:p.Ala5Glu | |
| ENST00000675851.1:c.14C>A | ENSP00000502624.1:p.Ala5Glu | |
| ENST00000676327.1:c.14C>A | ENSP00000502594.1:p.Ala5Glu | |
| ENST00000307633.7:c.14C>A | ENSP00000304668.3:p.Ala5Glu | |
| ENST00000415192.6:c.14C>A | ENSP00000411085.2:p.Ala5Glu | |
| ENST00000431330.6:c.14C>A | ENSP00000393244.2:p.Ala5Glu | |
| ENST00000438307.6:c.14C>A | ENSP00000411511.2:p.Ala5Glu | |
| ENST00000457527.6:c.14C>A | ENSP00000387893.2:p.Ala5Glu | |
| ENST00000502888.1:n.6C>A | ||
| ENST00000504156.5:c.14C>A | ENSP00000425634.1:p.Ala5Glu | |
| ENST00000506579.5:n.51C>A | ||
| ENST00000507746.5:c.14C>A | ENSP00000425889.1:p.Ala5Glu | |
| ENST00000512396.5:c.14C>A | ENSP00000421576.1:p.Ala5Glu | |
| ENST00000518126.5:n.49C>A | ||
| NM_001258040.2:c.14C>A | NP_001244969.1:p.Ala5Glu | |
| NM_001258041.2:c.14C>A | NP_001244970.1:p.Ala5Glu | |
| NM_001258042.2:c.14C>A | NP_001244971.1:p.Ala5Glu | |
| NM_001289092.1:c.14C>A | NP_001276021.1:p.Ala5Glu | |
| NM_001289093.1:c.14C>A | NP_001276022.1:p.Ala5Glu | |
| NM_001289094.1:c.3+11C>A | NP_001276023.1:n.3+11C>A | |
| NM_002109.5:c.14C>A | NP_002100.2:p.Ala5Glu | |
| NM_002109.6:c.14C>A MANE Select | NP_002100.2:p.Ala5Glu | |
| NM_001258040.3:c.14C>A | NP_001244969.1:p.Ala5Glu | |
| NM_001258041.3:c.14C>A | NP_001244970.1:p.Ala5Glu | |
| NM_001258042.3:c.14C>A | NP_001244971.1:p.Ala5Glu | |
| NM_001289092.2:c.14C>A | NP_001276021.1:p.Ala5Glu | |
| NM_001289093.2:c.14C>A | NP_001276022.1:p.Ala5Glu | |
| NM_001289094.2:c.3+11C>A | NP_001276023.1:n.3+11C>A |