Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115768108T= , CM000663.2:g.115768108T= | GRCh38 |
| NC_000001.10:g.116310729T= , CM000663.1:g.116310729T= | GRCh37 |
| NC_000001.9:g.116112252T= | NCBI36 |
| NG_008802.1:g.5698A= , LRG_404:g.5698A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000488931.2:c.-43+200A= | ENSP00000518226.1:n.-43+200A= | |
| ENST00000261448.6:c.234+200A= MANE Select | ENSP00000261448.5:n.234+200A= | |
| ENST00000261448.5:c.234+200A= | ENSP00000261448.5:n.234+200A= | |
| NM_001232.3:c.234+200A= , LRG_404t1:c.234+200A= | NP_001223.2:n.234+200A= | |
| NM_001232.4:c.234+200A= MANE Select | NP_001223.2:n.234+200A= |