Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.61401789C>A , CM000679.2:g.61401789C>A | GRCh38 |
| NC_000017.10:g.59479150C>A , CM000679.1:g.59479150C>A | GRCh37 |
| NC_000017.9:g.56833932C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000240328.4:c.501C>A MANE Select | ENSP00000240328.3:p.Phe167Leu | |
| ENST00000240328.3:c.501C>A | ENSP00000240328.3:p.Phe167Leu | |
| ENST00000419047.5:c.*38C>A | ENSP00000404781.1:n.*38C>A | |
| ENST00000477081.1:n.313C>A | ||
| NM_005994.3:c.501C>A | NP_005985.3:p.Phe167Leu | |
| XM_011525158.1:c.501C>A | XP_011523460.1:p.Phe167Leu | |
| NM_005994.4:c.501C>A MANE Select | NP_005985.3:p.Phe167Leu |