Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.128891379A>C , CM000673.2:g.128891379A>C | GRCh38 |
| NC_000011.9:g.128761274A>C , CM000673.1:g.128761274A>C | GRCh37 |
| NC_000011.8:g.128266484A>C | NCBI36 |
| NG_023406.2:g.4962A>C , LRG_333:g.4962A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000529694.6:c.-353A>C MANE Select | ENSP00000433295.1:n.-353A>C | |
| ENST00000529694.5:c.-353A>C | ENSP00000433295.1:n.-353A>C | |
| NM_000890.4:c.-353A>C | NP_000881.3:n.-353A>C | |
| NM_001354169.1:c.-442A>C | NP_001341098.1:n.-442A>C | |
| NM_000890.5:c.-353A>C MANE Select | NP_000881.3:n.-353A>C | |
| NM_001354169.2:c.-442A>C | NP_001341098.1:n.-442A>C |