Linked Data
dbSNP Id:
rs751142863
ExAC:
1:40431199 G / A
gnomAD v2:
1-40431199-G-A
gnomAD v4:
1-39965527-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.39965527G>A , CM000663.2:g.39965527G>A | GRCh38 |
| NC_000001.10:g.40431199G>A , CM000663.1:g.40431199G>A | GRCh37 |
| NC_000001.9:g.40203786G>A | NCBI36 |
| NG_053084.1:g.15416G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000372811.10:c.534G>A MANE Select | ENSP00000361898.6:p.Glu178= | |
| ENST00000372809.5:c.573G>A | ENSP00000361895.5:p.Glu191= | |
| ENST00000372811.9:c.534G>A | ENSP00000361898.5:p.Glu178= | |
| ENST00000420632.6:c.66G>A | ENSP00000391261.2:p.Glu22= | |
| ENST00000434861.5:c.528G>A | ENSP00000407606.1:p.Glu176= | |
| ENST00000469745.5:n.446G>A | ||
| ENST00000480630.5:n.1181G>A | ||
| ENST00000483824.5:n.669G>A | ||
| NM_001136493.2:c.573G>A | NP_001129965.1:p.Glu191= | |
| NM_001287808.1:c.66G>A | NP_001274737.1:p.Glu22= | |
| NM_001287809.1:c.423G>A | NP_001274738.1:p.Glu141= | |
| NM_032793.4:c.534G>A | NP_116182.2:p.Glu178= | |
| NR_109896.1:n.715G>A | ||
| XM_005271285.1:c.528G>A | XP_005271342.1:p.Glu176= | |
| XM_011542312.1:c.534G>A | XP_011540614.1:p.Glu178= | |
| XR_946783.1:n.682G>A | ||
| NM_001349821.1:c.528G>A | NP_001336750.1:p.Glu176= | |
| NM_001349822.1:c.534G>A | NP_001336751.1:p.Glu178= | |
| NM_001349823.1:c.189G>A | NP_001336752.1:p.Glu63= | |
| NM_001136493.3:c.573G>A | NP_001129965.1:p.Glu191= | |
| NM_001287809.2:c.423G>A | NP_001274738.1:p.Glu141= | |
| NM_001349821.2:c.528G>A | NP_001336750.1:p.Glu176= | |
| NM_001349822.2:c.534G>A | NP_001336751.1:p.Glu178= | |
| NM_001349823.2:c.189G>A | NP_001336752.1:p.Glu63= | |
| NM_032793.5:c.534G>A MANE Select | NP_116182.2:p.Glu178= | |
| NR_109896.2:n.682G>A | ||
| NM_001287808.2:c.66G>A | NP_001274737.1:p.Glu22= |