Linked Data
gnomAD v4:
11-69648005-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.69648005A>G , CM000673.2:g.69648005A>G | GRCh38 |
| NC_000011.9:g.69462773A>G , CM000673.1:g.69462773A>G | GRCh37 |
| NC_000011.8:g.69171954A>G | NCBI36 |
| NG_007375.1:g.11901A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000227507.3:c.586A>G MANE Select | ENSP00000227507.2:p.Ile196Val | |
| ENST00000227507.2:c.586A>G | ENSP00000227507.2:p.Ile196Val | |
| ENST00000536559.1:c.*6A>G | ENSP00000438482.1:n.*6A>G | |
| ENST00000542367.1:n.49A>G | ||
| ENST00000545484.1:n.292A>G | ||
| NM_053056.2:c.586A>G | NP_444284.1:p.Ile196Val | |
| XM_006718653.2:c.610A>G | XP_006718716.1:p.Ile204Val | |
| NM_053056.3:c.586A>G MANE Select | NP_444284.1:p.Ile196Val |