Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.75003280C>A , CM000676.2:g.75003280C>A | GRCh38 |
| NC_000014.8:g.75469983C>A , CM000676.1:g.75469983C>A | GRCh37 |
| NC_000014.7:g.74539736C>A | NCBI36 |
| NG_013333.1:g.5372C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000266126.10:c.169C>A MANE Select | ENSP00000266126.5:p.Leu57Met | |
| ENST00000266126.9:c.169C>A | ENSP00000266126.5:p.Leu57Met | |
| ENST00000553401.5:c.142C>A | ENSP00000451681.1:p.Leu48Met | |
| ENST00000553539.1:n.309C>A | ||
| ENST00000555522.1:n.227C>A | ||
| ENST00000556028.5:c.169C>A | ENSP00000452311.1:p.Leu57Met | |
| NM_014239.3:c.169C>A | NP_055054.1:p.Leu57Met | |
| NM_014239.4:c.169C>A MANE Select | NP_055054.1:p.Leu57Met |