Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52488406T>A , CM000674.2:g.52488406T>A | GRCh38 |
| NC_000012.11:g.52882190T>A , CM000674.1:g.52882190T>A | GRCh37 |
| NC_000012.10:g.51168457T>A | NCBI36 |
| NG_008298.1:g.9992A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000330722.7:c.1346A>T MANE Select | ENSP00000369317.3:p.Gln449Leu | |
| ENST00000330722.6:c.1346A>T | ENSP00000369317.3:p.Gln449Leu | |
| NM_005554.3:c.1346A>T | NP_005545.1:p.Gln449Leu | |
| NM_005554.4:c.1346A>T MANE Select | NP_005545.1:p.Gln449Leu |