Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891437C= , CM000673.2:g.128891437C= | GRCh38 |
| NC_000011.9:g.128761332C= , CM000673.1:g.128761332C= | GRCh37 |
| NC_000011.8:g.128266542C= | NCBI36 |
| NG_023406.2:g.5020C= , LRG_333:g.5020C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-295C= MANE Select | ENSP00000433295.1:n.-295C= | |
| ENST00000529694.5:c.-295C= | ENSP00000433295.1:n.-295C= | |
| NM_000890.3:c.-295C= , LRG_333t1:c.-295C= | NP_000881.3:n.-295C= | |
| NM_000890.4:c.-295C= | NP_000881.3:n.-295C= | |
| NM_001354169.1:c.-384C= | NP_001341098.1:n.-384C= | |
| NM_000890.5:c.-295C= MANE Select | NP_000881.3:n.-295C= | |
| NM_001354169.2:c.-384C= | NP_001341098.1:n.-384C= |