Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67942761G>T , CM000678.2:g.67942761G>T | GRCh38 |
| NC_000016.9:g.67976664G>T , CM000678.1:g.67976664G>T | GRCh37 |
| NC_000016.8:g.66534165G>T | NCBI36 |
| NG_009778.1:g.6352C>A | |
| NG_033098.1:g.30934C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.433C>A MANE Select | ENSP00000264005.5:p.Leu145Met | |
| ENST00000264005.9:c.433C>A | ENSP00000264005.5:p.Leu145Met | |
| ENST00000570369.5:c.155+100C>A | ||
| ENST00000570980.1:c.217C>A | ENSP00000464651.1:p.Leu73Met | |
| ENST00000573538.5:c.76C>A | ENSP00000463220.1:p.Leu26Met | |
| ENST00000573846.1:n.47C>A | ||
| ENST00000575277.1:n.211C>A | ||
| ENST00000575467.5:c.*128C>A | ENSP00000460653.1:n.*128C>A | |
| NM_000229.1:c.433C>A | NP_000220.1:p.Leu145Met | |
| NM_000229.2:c.433C>A MANE Select | NP_000220.1:p.Leu145Met |