Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115702996C= , CM000663.2:g.115702996C= | GRCh38 |
| NC_000001.10:g.116245617C= , CM000663.1:g.116245617C= | GRCh37 |
| NC_000001.9:g.116047140C= | NCBI36 |
| NG_008802.1:g.70810G= , LRG_404:g.70810G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.940-1G= MANE Select | NP_001223.2:n.940-1G= |
| ENST00000261448.6:c.940-1G= MANE Select | ENSP00000261448.5:n.940-1G= |
| NM_001232.3:c.940-1G= , LRG_404t1:c.940-1G= | NP_001223.2:n.940-1G= |
| ENST00000261448.5:c.940-1G= | ENSP00000261448.5:n.940-1G= |
| ENST00000488931.2:c.*312-1G= | ENSP00000518226.1:n.*312-1G= |