Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110914143T= , CM000674.2:g.110914143T= | GRCh38 |
| NC_000012.11:g.111351947T= , CM000674.1:g.111351947T= | GRCh37 |
| NC_000012.10:g.109836330T= | NCBI36 |
| NG_007554.1:g.11435A= , LRG_393:g.11435A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000228841.15:c.274+43A= MANE Select | ENSP00000228841.8:n.274+43A= | |
| ENST00000663220.1:c.217+43A= | ENSP00000499568.1:n.217+43A= | |
| ENST00000228841.12:c.274+43A= | ENSP00000228841.7:n.274+43A= | |
| ENST00000548438.1:c.232+43A= | ENSP00000447154.1:n.232+43A= | |
| ENST00000549029.1:n.105+43A= | ||
| NM_000432.3:c.274+43A= , LRG_393t1:c.274+43A= | NP_000423.2:n.274+43A= | |
| NM_000432.4:c.274+43A= MANE Select | NP_000423.2:n.274+43A= |