Linked Data
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162946G>A , CM000677.2:g.64162946G>A | GRCh38 |
| NC_000015.9:g.64455145G>A , CM000677.1:g.64455145G>A | GRCh37 |
| NC_000015.8:g.62242198G>A | NCBI36 |
| NG_012979.1:g.5210C>T , LRG_10:g.5210C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.41C>T MANE Select | ENSP00000300026.4:p.Ala14Val | |
| ENST00000561048.2:n.74C>T | ||
| ENST00000680158.1:c.41C>T | ENSP00000504873.1:p.Ala14Val | |
| ENST00000681397.1:c.41C>T | ENSP00000506584.1:p.Ala14Val | |
| ENST00000681658.1:c.30+11C>T | ENSP00000505431.1:n.30+11C>T | |
| ENST00000300026.3:c.41C>T | ENSP00000300026.3:p.Ala14Val | |
| ENST00000558492.1:n.61C>T | ||
| ENST00000561048.1:n.76C>T | ||
| NM_000942.4:c.41C>T , LRG_10t1:c.41C>T | NP_000933.1:p.Ala14Val | |
| NM_000942.5:c.41C>T MANE Select | NP_000933.1:p.Ala14Val |