MyVariant.info:
GRCh37
chr12:g.105583551T>C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.105189773T>C , CM000674.2:g.105189773T>C | GRCh38 |
| NC_000012.11:g.105583551T>C , CM000674.1:g.105583551T>C | GRCh37 |
| NC_000012.10:g.104107681T>C | NCBI36 |
| NG_030419.1:g.51458A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258530.8:c.1458A>G MANE Select | ENSP00000258530.3:p.Glu486= | |
| ENST00000258530.7:c.1458A>G | ENSP00000258530.3:p.Glu486= | |
| ENST00000539978.6:c.1329A>G | ENSP00000444472.2:p.Glu443= | |
| ENST00000547439.5:c.*743A>G | ENSP00000449410.1:n.*743A>G | |
| ENST00000547809.5:n.1468A>G | ||
| ENST00000551662.5:c.1476A>G | ENSP00000446917.1:p.Glu492= | |
| ENST00000552945.1:n.298A>G | ||
| ENST00000553109.1:c.102A>G | ENSP00000446510.1:p.Glu34= | |
| NM_001251904.1:c.1476A>G | NP_001238833.1:p.Glu492= | |
| NM_001251905.1:c.1329A>G | NP_001238834.1:p.Glu443= | |
| NM_018171.3:c.1458A>G | NP_060641.2:p.Glu486= | |
| XM_006719472.1:c.1476A>G | XP_006719535.1:p.Glu492= | |
| XM_011538530.1:c.1437A>G | XP_011536832.1:p.Glu479= | |
| XM_011538531.1:c.1347A>G | XP_011536833.1:p.Glu449= | |
| XM_011538532.1:c.1347A>G | XP_011536834.1:p.Glu449= | |
| XM_011538530.3:c.1437A>G | XP_011536832.1:p.Glu479= | |
| XM_011538531.3:c.1347A>G | XP_011536833.1:p.Glu449= | |
| XM_011538532.3:c.1347A>G | XP_011536834.1:p.Glu449= | |
| XM_017019551.2:c.1419A>G | XP_016875040.1:p.Glu473= | |
| XM_017019552.2:c.1329A>G | XP_016875041.1:p.Glu443= | |
| XM_017019553.2:c.1329A>G | XP_016875042.1:p.Glu443= | |
| XM_017019554.1:c.1458A>G | XP_016875043.1:p.Glu486= | |
| XR_001748795.1:n.1638A>G | ||
| XR_001748796.1:n.1620A>G | ||
| NM_018171.4:c.1458A>G | NP_060641.2:p.Glu486= | |
| NM_018171.5:c.1458A>G MANE Select | NP_060641.2:p.Glu486= | |
| NM_001251904.2:c.1476A>G | NP_001238833.1:p.Glu492= | |
| NM_001251905.2:c.1329A>G | NP_001238834.1:p.Glu443= |