Linked Data
gnomAD v4:
21-44456988-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44456988T>A , CM000683.2:g.44456988T>A | GRCh38 |
| NC_000021.8:g.45876871T>A , CM000683.1:g.45876871T>A | GRCh37 |
| NC_000021.7:g.44701299T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000291592.6:c.344T>A MANE Select | ENSP00000291592.4:p.Leu115Gln | |
| ENST00000291592.5:c.344T>A | ENSP00000291592.4:p.Leu115Gln | |
| NM_030891.4:c.344T>A | NP_112153.1:p.Leu115Gln | |
| NM_030891.5:c.344T>A | NP_112153.1:p.Leu115Gln | |
| NM_030891.6:c.344T>A MANE Select | NP_112153.1:p.Leu115Gln |