Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.64162898G>A , CM000677.2:g.64162898G>A | GRCh38 |
| NC_000015.9:g.64455097G>A , CM000677.1:g.64455097G>A | GRCh37 |
| NC_000015.8:g.62242150G>A | NCBI36 |
| NG_012979.1:g.5258C>T , LRG_10:g.5258C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000300026.4:c.89C>T MANE Select | ENSP00000300026.4:p.Pro30Leu | |
| ENST00000561048.2:n.122C>T | ||
| ENST00000680158.1:c.89C>T | ENSP00000504873.1:p.Pro30Leu | |
| ENST00000681397.1:c.89C>T | ENSP00000506584.1:p.Pro30Leu | |
| ENST00000681658.1:c.30+59C>T | ENSP00000505431.1:n.30+59C>T | |
| ENST00000300026.3:c.89C>T | ENSP00000300026.3:p.Pro30Leu | |
| ENST00000558492.1:n.109C>T | ||
| ENST00000561048.1:n.124C>T | ||
| NM_000942.4:c.89C>T , LRG_10t1:c.89C>T | NP_000933.1:p.Pro30Leu | |
| NM_000942.5:c.89C>T MANE Select | NP_000933.1:p.Pro30Leu |