Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768185A= , CM000663.2:g.115768185A= | GRCh38 |
| NC_000001.10:g.116310806A= , CM000663.1:g.116310806A= | GRCh37 |
| NC_000001.9:g.116112329A= | NCBI36 |
| NG_008802.1:g.5621T= , LRG_404:g.5621T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+123T= | ENSP00000518226.1:n.-43+123T= | |
| ENST00000261448.6:c.234+123T= MANE Select | ENSP00000261448.5:n.234+123T= | |
| ENST00000261448.5:c.234+123T= | ENSP00000261448.5:n.234+123T= | |
| NM_001232.3:c.234+123T= , LRG_404t1:c.234+123T= | NP_001223.2:n.234+123T= | |
| NM_001232.4:c.234+123T= MANE Select | NP_001223.2:n.234+123T= |