Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.114713550T= , CM000663.2:g.114713550T= | GRCh38 |
| NC_000001.10:g.115256171T= , CM000663.1:g.115256171T= | GRCh37 |
| NC_000001.9:g.115057694T= | NCBI36 |
| NG_007572.1:g.8345A= , LRG_92:g.8345A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369535.5:c.290+250A= MANE Select | ENSP00000358548.4:n.290+250A= | |
| ENST00000369535.4:c.290+250A= | ENSP00000358548.4:n.290+250A= | |
| NM_002524.4:c.290+250A= | NP_002515.1:n.290+250A= | |
| NM_002524.5:c.290+250A= MANE Select | NP_002515.1:n.290+250A= |