Linked Data
ClinVar Variation Id:
17728
dbSNP Id:
rs12075
ExAC:
1:159175354 G / A
gnomAD v2:
1-159175354-G-A
gnomAD v3:
1-159205564-G-A
gnomAD v4:
1-159205564-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.159205564G>A , CM000663.2:g.159205564G>A | GRCh38 |
| NC_000001.10:g.159175354G>A , CM000663.1:g.159175354G>A | GRCh37 |
| NC_000001.9:g.157441978G>A | NCBI36 |
| NG_011626.1:g.5845G>A | |
| NG_011626.3:g.6552G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000368121.6:c.131G>A | ENSP00000357103.2:p.Gly44Asp | |
| ENST00000368122.4:c.125G>A MANE Select | ENSP00000357104.1:p.Gly42Asp | |
| ENST00000435307.2:n.306G>A | ||
| ENST00000368121.3:c.131G>A | ENSP00000357103.2:p.Gly44Asp | |
| ENST00000368122.2:c.125G>A | ENSP00000357104.1:p.Gly42Asp | |
| ENST00000435307.1:c.131G>A | ENSP00000398406.1:p.Gly44Asp | |
| ENST00000537147.5:c.125G>A | ENSP00000441985.1:p.Gly42Asp | |
| NM_001122951.2:c.131G>A | NP_001116423.1:p.Gly44Asp | |
| NM_002036.3:c.125G>A | NP_002027.2:p.Gly42Asp | |
| NM_002036.4:c.125G>A MANE Select | NP_002027.2:p.Gly42Asp | |
| NM_001122951.3:c.131G>A | NP_001116423.1:p.Gly44Asp |