Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75009100T>A , CM000676.2:g.75009100T>A | GRCh38 |
| NC_000014.8:g.75475803T>A , CM000676.1:g.75475803T>A | GRCh37 |
| NC_000014.7:g.74545556T>A | NCBI36 |
| NG_013333.1:g.11192T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.968T>A MANE Select | ENSP00000266126.5:p.Leu323His | |
| ENST00000266126.9:c.968T>A | ENSP00000266126.5:p.Leu323His | |
| ENST00000556668.1:n.548T>A | ||
| NM_014239.3:c.968T>A | NP_055054.1:p.Leu323His | |
| NM_014239.4:c.968T>A MANE Select | NP_055054.1:p.Leu323His |