Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891363C= , CM000673.2:g.128891363C= | GRCh38 |
| NC_000011.9:g.128761258C= , CM000673.1:g.128761258C= | GRCh37 |
| NC_000011.8:g.128266468C= | NCBI36 |
| NG_023406.2:g.4946C= , LRG_333:g.4946C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-369C= MANE Select | ENSP00000433295.1:n.-369C= | |
| ENST00000529694.5:c.-369C= | ENSP00000433295.1:n.-369C= | |
| NM_000890.4:c.-369C= | NP_000881.3:n.-369C= | |
| NM_001354169.1:c.-458C= | NP_001341098.1:n.-458C= | |
| NM_000890.5:c.-369C= MANE Select | NP_000881.3:n.-369C= | |
| NM_001354169.2:c.-458C= | NP_001341098.1:n.-458C= |