Linked Data
ClinVar Variation Id:
594729
ClinVar RCV Id:
RCV000730088
dbSNP Id:
rs766480693
ExAC:
12:48389668 G / T
gnomAD v2:
12-48389668-G-T
gnomAD v4:
12-47995885-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.47995885G>T , CM000674.2:g.47995885G>T | GRCh38 |
| NC_000012.11:g.48389668G>T , CM000674.1:g.48389668G>T | GRCh37 |
| NC_000012.10:g.46675935G>T | NCBI36 |
| NG_008072.1:g.13618C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000337299.7:c.437C>A | ENSP00000338213.6:p.Ala146Glu | |
| ENST00000380518.8:c.644C>A MANE Select | ENSP00000369889.3:p.Ala215Glu | |
| ENST00000337299.6:c.437C>A | ENSP00000338213.6:p.Ala146Glu | |
| ENST00000380518.7:c.644C>A | ENSP00000369889.3:p.Ala215Glu | |
| NM_001844.4:c.644C>A | NP_001835.3:p.Ala215Glu | |
| NM_033150.2:c.437C>A | NP_149162.2:p.Ala146Glu | |
| XM_006719242.2:c.788C>A | XP_006719305.2:p.Ala263Glu | |
| XM_011537928.1:c.788C>A | XP_011536230.1:p.Ala263Glu | |
| XM_011537929.1:c.788C>A | XP_011536231.1:p.Ala263Glu | |
| XM_011537930.1:c.788C>A | XP_011536232.1:p.Ala263Glu | |
| XM_011537931.1:c.788C>A | XP_011536233.1:p.Ala263Glu | |
| XM_011537932.1:c.788C>A | XP_011536234.1:p.Ala263Glu | |
| XM_011537933.1:c.788C>A | XP_011536235.1:p.Ala263Glu | |
| XM_011537934.1:c.785C>A | XP_011536236.1:p.Ala262Glu | |
| XM_017018828.1:c.788C>A | XP_016874317.1:p.Ala263Glu | |
| XM_017018829.1:c.785C>A | XP_016874318.1:p.Ala262Glu | |
| XM_017018830.1:c.578C>A | XP_016874319.1:p.Ala193Glu | |
| XM_017018831.2:c.98C>A | XP_016874320.1:p.Ala33Glu | |
| NM_001844.5:c.644C>A MANE Select | NP_001835.3:p.Ala215Glu | |
| NM_033150.3:c.437C>A | NP_149162.2:p.Ala146Glu |