Linked Data
gnomAD v4:
15-80591660-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.80591660G>A , CM000677.2:g.80591660G>A | GRCh38 |
| NC_000015.9:g.80884001G>A , CM000677.1:g.80884001G>A | GRCh37 |
| NC_000015.8:g.78671056G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000303329.9:c.2011G>A MANE Select | ENSP00000307479.4:p.Glu671Lys | |
| ENST00000303329.8:c.2011G>A | ENSP00000307479.4:p.Glu671Lys | |
| ENST00000527771.5:c.1978G>A | ENSP00000453792.1:p.Glu660Lys | |
| ENST00000533983.5:c.1978G>A | ENSP00000453651.1:p.Glu660Lys | |
| ENST00000610490.4:c.*309G>A | ENSP00000483762.1:n.*309G>A | |
| ENST00000622346.4:c.2011G>A | ENSP00000479393.1:p.Glu671Lys | |
| NM_014862.3:c.2011G>A | NP_055677.3:p.Glu671Lys | |
| NM_014862.4:c.2011G>A MANE Select | NP_055677.3:p.Glu671Lys |