MyVariant.info:
GRCh37
chr12:g.105583575C>T
ClinVar RCV:
ClinVar Variation:
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189797C>T , CM000674.2:g.105189797C>T | GRCh38 |
| NC_000012.11:g.105583575C>T , CM000674.1:g.105583575C>T | GRCh37 |
| NC_000012.10:g.104107705C>T | NCBI36 |
| NG_030419.1:g.51434G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1434G>A MANE Select | ENSP00000258530.3:p.Glu478= | |
| ENST00000258530.7:c.1434G>A | ENSP00000258530.3:p.Glu478= | |
| ENST00000539978.6:c.1305G>A | ENSP00000444472.2:p.Glu435= | |
| ENST00000547439.5:c.*719G>A | ENSP00000449410.1:n.*719G>A | |
| ENST00000547809.5:n.1444G>A | ||
| ENST00000551662.5:c.1452G>A | ENSP00000446917.1:p.Glu484= | |
| ENST00000552945.1:n.274G>A | ||
| ENST00000553109.1:c.78G>A | ENSP00000446510.1:p.Glu26= | |
| NM_001251904.1:c.1452G>A | NP_001238833.1:p.Glu484= | |
| NM_001251905.1:c.1305G>A | NP_001238834.1:p.Glu435= | |
| NM_018171.3:c.1434G>A | NP_060641.2:p.Glu478= | |
| XM_006719472.1:c.1452G>A | XP_006719535.1:p.Glu484= | |
| XM_011538530.1:c.1413G>A | XP_011536832.1:p.Glu471= | |
| XM_011538531.1:c.1323G>A | XP_011536833.1:p.Glu441= | |
| XM_011538532.1:c.1323G>A | XP_011536834.1:p.Glu441= | |
| XM_011538530.3:c.1413G>A | XP_011536832.1:p.Glu471= | |
| XM_011538531.3:c.1323G>A | XP_011536833.1:p.Glu441= | |
| XM_011538532.3:c.1323G>A | XP_011536834.1:p.Glu441= | |
| XM_017019551.2:c.1395G>A | XP_016875040.1:p.Glu465= | |
| XM_017019552.2:c.1305G>A | XP_016875041.1:p.Glu435= | |
| XM_017019553.2:c.1305G>A | XP_016875042.1:p.Glu435= | |
| XM_017019554.1:c.1434G>A | XP_016875043.1:p.Glu478= | |
| XR_001748795.1:n.1614G>A | ||
| XR_001748796.1:n.1596G>A | ||
| NM_018171.4:c.1434G>A | NP_060641.2:p.Glu478= | |
| NM_018171.5:c.1434G>A MANE Select | NP_060641.2:p.Glu478= | |
| NM_001251904.2:c.1452G>A | NP_001238833.1:p.Glu484= | |
| NM_001251905.2:c.1305G>A | NP_001238834.1:p.Glu435= |