Linked Data
ClinVar Variation Id:
93371
dbSNP Id:
rs373713279
gnomAD v3:
19-41422278-C-A
gnomAD v4:
19-41422278-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.41422278C>A , CM000681.2:g.41422278C>A | GRCh38 |
| NC_000019.9:g.41928183C>A , CM000681.1:g.41928183C>A | GRCh37 |
| NC_000019.8:g.46620023C>A | NCBI36 |
| NG_013004.1:g.29490C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000269980.7:c.761C>A MANE Select | ENSP00000269980.2:p.Ala254Asp | |
| ENST00000269980.6:c.761C>A | ENSP00000269980.2:p.Ala254Asp | |
| ENST00000457836.6:c.695C>A | ENSP00000416000.2:p.Ala232Asp | |
| ENST00000535632.5:n.390C>A | ||
| ENST00000540732.3:c.863C>A | ENSP00000443246.1:p.Ala288Asp | |
| ENST00000542943.5:c.674C>A | ENSP00000440345.1:p.Ala225Asp | |
| ENST00000545787.1:n.389C>A | ||
| ENST00000595085.5:c.761C>A | ENSP00000471150.2:p.Ala254Asp | |
| NM_000709.3:c.761C>A | NP_000700.1:p.Ala254Asp | |
| NM_001164783.1:c.761C>A | NP_001158255.1:p.Ala254Asp | |
| NM_000709.4:c.761C>A MANE Select | NP_000700.1:p.Ala254Asp | |
| NM_001164783.2:c.761C>A | NP_001158255.1:p.Ala254Asp |