Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.108084694C>A , CM000685.2:g.108084694C>A | GRCh38 |
| NC_000023.10:g.107327924C>A , CM000685.1:g.107327924C>A | GRCh37 |
| NC_000023.9:g.107214580C>A | NCBI36 |
| NG_012521.1:g.11925G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000217958.8:c.*280G>T MANE Select | ENSP00000217958.3:n.*280G>T | |
| ENST00000217958.7:c.*280G>T | ENSP00000217958.3:n.*280G>T | |
| ENST00000372296.5:c.*426G>T | ENSP00000361370.1:n.*426G>T | |
| NM_002814.3:c.*280G>T | NP_002805.1:n.*280G>T | |
| NM_170750.2:c.*426G>T | NP_736606.1:n.*426G>T | |
| NM_002814.4:c.*280G>T MANE Select | NP_002805.1:n.*280G>T | |
| NM_170750.3:c.*426G>T | NP_736606.1:n.*426G>T |