Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.67940325T>A , CM000678.2:g.67940325T>A | GRCh38 |
| NC_000016.9:g.67974228T>A , CM000678.1:g.67974228T>A | GRCh37 |
| NC_000016.8:g.66531729T>A | NCBI36 |
| NG_009778.1:g.8788A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264005.10:c.902A>T MANE Select | ENSP00000264005.5:p.Asp301Val | |
| ENST00000264005.9:c.902A>T | ENSP00000264005.5:p.Asp301Val | |
| ENST00000570369.5:c.156-251A>T | ||
| ENST00000570980.1:c.686A>T | ENSP00000464651.1:p.Asp229Val | |
| ENST00000573538.5:c.640A>T | ENSP00000463220.1:n.640A>T | |
| NM_000229.1:c.902A>T | NP_000220.1:p.Asp301Val | |
| NM_000229.2:c.902A>T MANE Select | NP_000220.1:p.Asp301Val |