Linked Data
ClinVar Variation Id:
762504
ClinVar RCV Id:
RCV000940656
dbSNP Id:
rs181964842
ExAC:
12:76462720 T / C
gnomAD v2:
12-76462720-T-C
gnomAD v3:
12-76068940-T-C
gnomAD v4:
12-76068940-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76068940T>C , CM000674.2:g.76068940T>C | GRCh38 |
| NC_000012.11:g.76462720T>C , CM000674.1:g.76462720T>C | GRCh37 |
| NC_000012.10:g.74748987T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000618691.5:c.72A>G MANE Select | ENSP00000477538.1:p.Glu24= | |
| ENST00000261182.12:c.72A>G | ENSP00000261182.8:p.Glu24= | |
| ENST00000393263.7:c.72A>G | ENSP00000376947.3:p.Glu24= | |
| ENST00000431879.7:c.-52A>G | ENSP00000409795.3:n.-52A>G | |
| ENST00000535020.6:c.72A>G | ENSP00000445008.2:p.Glu24= | |
| ENST00000542344.5:c.-20-1467A>G | ENSP00000444759.1:n.-20-1467A>G | |
| ENST00000544816.5:c.-343-8661A>G | ENSP00000437507.1:n.-343-8661A>G | |
| ENST00000547479.5:c.72A>G | ENSP00000449333.1:p.Glu24= | |
| ENST00000547704.5:c.72A>G | ENSP00000446756.1:p.Glu24= | |
| ENST00000547773.5:c.17+5263A>G | ENSP00000448167.1:n.17+5263A>G | |
| ENST00000548044.5:c.-52A>G | ENSP00000449649.1:n.-52A>G | |
| ENST00000548273.5:c.-20-1467A>G | ENSP00000446787.1:n.-20-1467A>G | |
| ENST00000549479.1:n.211A>G | ||
| ENST00000549596.5:c.72A>G | ENSP00000447793.1:p.Glu24= | |
| ENST00000549988.5:n.120-8661A>G | ||
| ENST00000550934.5:c.72A>G | ENSP00000448133.1:p.Glu24= | |
| ENST00000551600.5:c.72A>G | ENSP00000448836.1:p.Glu24= | |
| ENST00000551992.5:c.72A>G | ENSP00000448764.1:p.Glu24= | |
| ENST00000552056.5:c.54A>G | ENSP00000450236.1:p.Glu18= | |
| ENST00000552342.5:c.72A>G | ENSP00000447196.1:p.Glu24= | |
| ENST00000618691.4:c.72A>G | ENSP00000477538.1:p.Glu24= | |
| NM_001307924.1:c.72A>G | NP_001294853.1:p.Glu24= | |
| NM_004537.4:c.72A>G | NP_004528.1:p.Glu24= | |
| NM_004537.5:c.72A>G | NP_004528.1:p.Glu24= | |
| NM_139207.2:c.72A>G | NP_631946.1:p.Glu24= | |
| NM_139207.3:c.72A>G | NP_631946.1:p.Glu24= | |
| XM_006719423.2:c.72A>G | XP_006719486.1:p.Glu24= | |
| XM_006719424.2:c.17+5263A>G | XP_006719487.1:n.17+5263A>G | |
| XM_006719425.2:c.17+5263A>G | XP_006719488.1:n.17+5263A>G | |
| XM_011538390.1:c.108A>G | XP_011536692.1:p.Glu36= | |
| XM_011538391.1:c.72A>G | XP_011536693.1:p.Glu24= | |
| XM_011538392.1:c.72A>G | XP_011536694.1:p.Glu24= | |
| XM_011538393.1:c.72A>G | XP_011536695.1:p.Glu24= | |
| XM_011538395.1:c.17+5263A>G | XP_011536697.1:n.17+5263A>G | |
| NM_001307924.2:c.72A>G | NP_001294853.1:p.Glu24= | |
| NM_001330231.1:c.72A>G | NP_001317160.1:p.Glu24= | |
| NM_001330232.1:c.17+5263A>G | NP_001317161.1:n.17+5263A>G | |
| NM_004537.6:c.72A>G | NP_004528.1:p.Glu24= | |
| NM_139207.4:c.72A>G | NP_631946.1:p.Glu24= | |
| XM_011538393.2:c.72A>G | XP_011536695.1:p.Glu24= | |
| XM_017019338.1:c.72A>G | XP_016874827.1:p.Glu24= | |
| XM_017019339.1:c.17+5263A>G | XP_016874828.1:n.17+5263A>G | |
| XM_017019340.2:c.17+5263A>G | XP_016874829.1:n.17+5263A>G | |
| XM_024448983.1:c.17+5263A>G | XP_024304751.1:n.17+5263A>G | |
| XR_001748714.2:n.211A>G | ||
| XR_001748715.2:n.211A>G | ||
| XR_001748716.1:n.471A>G | ||
| XR_001748717.2:n.158+5263A>G | ||
| XR_002957328.1:n.211A>G | ||
| NM_004537.7:c.72A>G MANE Select | NP_004528.1:p.Glu24= | |
| NM_001307924.3:c.72A>G | NP_001294853.1:p.Glu24= | |
| NM_001330231.2:c.72A>G | NP_001317160.1:p.Glu24= | |
| NM_001330232.2:c.17+5263A>G | NP_001317161.1:n.17+5263A>G | |
| NM_139207.5:c.72A>G | NP_631946.1:p.Glu24= |