Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.74259776C>A , CM000676.2:g.74259776C>A | GRCh38 |
| NC_000014.8:g.74726479C>A , CM000676.1:g.74726479C>A | GRCh37 |
| NC_000014.7:g.73796232C>A | NCBI36 |
| NG_013092.1:g.25305C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000261980.3:c.754C>A MANE Select | ENSP00000261980.2:p.Leu252Ile | |
| ENST00000261980.2:c.754C>A | ENSP00000261980.2:p.Leu252Ile | |
| NM_182894.2:c.754C>A | NP_878314.1:p.Leu252Ile | |
| XM_011536719.1:c.754C>A | XP_011535021.1:p.Leu252Ile | |
| NM_182894.3:c.754C>A MANE Select | NP_878314.1:p.Leu252Ile |