Linked Data
dbSNP Id:
rs772522961
ExAC:
11:116703564 C / A
gnomAD v2:
11-116703564-C-A
gnomAD v4:
11-116832848-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.116832848C>A , CM000673.2:g.116832848C>A | GRCh38 |
| NC_000011.9:g.116703564C>A , CM000673.1:g.116703564C>A | GRCh37 |
| NC_000011.8:g.116208774C>A | NCBI36 |
| NG_008949.1:g.7941C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227667.8:c.264C>A MANE Select | ENSP00000227667.2:p.Asp88Glu | |
| ENST00000227667.7:c.264C>A | ENSP00000227667.2:p.Asp88Glu | |
| ENST00000375345.3:c.318C>A | ENSP00000364494.1:p.Asp106Glu | |
| ENST00000630701.1:c.318C>A | ENSP00000486182.1:p.Asp106Glu | |
| NM_000040.1:c.264C>A | NP_000031.1:p.Asp88Glu | |
| NM_000040.2:c.264C>A | NP_000031.1:p.Asp88Glu | |
| NM_000040.3:c.264C>A MANE Select | NP_000031.1:p.Asp88Glu |