Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115732928G= , CM000663.2:g.115732928G= | GRCh38 |
| NC_000001.10:g.116275549G= , CM000663.1:g.116275549G= | GRCh37 |
| NC_000001.9:g.116077072G= | NCBI36 |
| NG_008802.1:g.40878C= , LRG_404:g.40878C= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000488931.2:c.303C= | ENSP00000518226.1:p.Ile101= | |
| ENST00000261448.6:c.579C= MANE Select | ENSP00000261448.5:p.Ile193= | |
| ENST00000261448.5:c.579C= | ENSP00000261448.5:p.Ile193= | |
| NM_001232.3:c.579C= , LRG_404t1:c.579C= | NP_001223.2:p.Ile193= | |
| NM_001232.4:c.579C= MANE Select | NP_001223.2:p.Ile193= |