Linked Data
ClinVar Variation Id:
11532
ClinVar RCV Id:
RCV000012288
dbSNP Id:
rs137852816
PubMed:
PMID:19200522
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.41853204C>A , CM000685.2:g.41853204C>A | GRCh38 |
| NC_000023.10:g.41712457C>A , CM000685.1:g.41712457C>A | GRCh37 |
| NC_000023.9:g.41597401C>A | NCBI36 |
| NG_016754.1:g.74831G>T | |
| NG_016754.2:g.74831G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000378154.3:c.83G>T | ENSP00000367396.2:p.Arg28Leu | |
| ENST00000378158.6:c.83G>T | ENSP00000367400.2:p.Arg28Leu | |
| ENST00000378163.7:c.83G>T MANE Select | ENSP00000367405.1:p.Arg28Leu | |
| ENST00000378166.9:c.83G>T | ENSP00000367408.5:p.Arg28Leu | |
| ENST00000378168.8:c.83G>T | ENSP00000367410.4:p.Arg28Leu | |
| ENST00000421587.8:c.83G>T | ENSP00000400526.4:p.Arg28Leu | |
| ENST00000442742.7:c.83G>T | ENSP00000398007.3:p.Arg28Leu | |
| ENST00000468986.7:n.42G>T | ||
| ENST00000643831.2:c.83G>T | ENSP00000494388.2:p.Arg28Leu | |
| ENST00000644219.1:c.83G>T | ENSP00000495357.1:p.Arg28Leu | |
| ENST00000644347.1:c.83G>T | ENSP00000494183.1:p.Arg28Leu | |
| ENST00000644770.1:c.83G>T | ENSP00000494144.1:p.Arg28Leu | |
| ENST00000645566.1:c.83G>T | ENSP00000494788.1:p.Arg28Leu | |
| ENST00000645986.2:c.83G>T | ENSP00000494409.2:p.Arg28Leu | |
| ENST00000646120.2:c.83G>T | ENSP00000495291.2:p.Arg28Leu | |
| ENST00000647118.2:c.83G>T | ENSP00000493700.1:p.Arg28Leu | |
| ENST00000675354.1:c.83G>T | ENSP00000502315.1:p.Arg28Leu | |
| ENST00000378154.1:c.83G>T | ENSP00000367396.1:p.Arg28Leu | |
| ENST00000378158.5:c.83G>T | ENSP00000367400.1:p.Arg28Leu | |
| ENST00000378163.5:c.83G>T | ENSP00000367405.1:p.Arg28Leu | |
| ENST00000378166.8:c.83G>T | ENSP00000367408.4:p.Arg28Leu | |
| ENST00000421587.6:c.83G>T | ENSP00000400526.2:p.Arg28Leu | |
| ENST00000442742.6:c.83G>T | ENSP00000398007.2:p.Arg28Leu | |
| ENST00000468986.6:n.110G>T | ||
| ENST00000477823.1:n.77G>T | ||
| NM_001126054.2:c.83G>T | NP_001119526.1:p.Arg28Leu | |
| NM_001126055.2:c.83G>T | NP_001119527.1:p.Arg28Leu | |
| NM_003688.3:c.83G>T | NP_003679.2:p.Arg28Leu | |
| XM_005272686.3:c.83G>T | XP_005272743.1:p.Arg28Leu | |
| XM_006724566.2:c.83G>T | XP_006724629.1:p.Arg28Leu | |
| XM_011543993.1:c.83G>T | XP_011542295.1:p.Arg28Leu | |
| XM_011543994.1:c.83G>T | XP_011542296.1:p.Arg28Leu | |
| XM_011543995.1:c.83G>T | XP_011542297.1:p.Arg28Leu | |
| XM_011543996.1:c.83G>T | XP_011542298.1:p.Arg28Leu | |
| XM_005272686.4:c.83G>T | XP_005272743.1:p.Arg28Leu | |
| XM_006724566.3:c.83G>T | XP_006724629.1:p.Arg28Leu | |
| XM_011543993.2:c.83G>T | XP_011542295.1:p.Arg28Leu | |
| XM_011543994.2:c.83G>T | XP_011542296.1:p.Arg28Leu | |
| XM_011543995.2:c.83G>T | XP_011542297.1:p.Arg28Leu | |
| XM_011543996.2:c.83G>T | XP_011542298.1:p.Arg28Leu | |
| NM_001367721.1:c.83G>T MANE Select | NP_001354650.1:p.Arg28Leu |