Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21174505C>T , CM000674.2:g.21174505C>T | GRCh38 |
| NC_000012.11:g.21327439C>T , CM000674.1:g.21327439C>T | GRCh37 |
| NC_000012.10:g.21218706C>T | NCBI36 |
| NG_011745.1:g.48312C>T , LRG_1022:g.48312C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000256958.3:c.227-72C>T MANE Select | ENSP00000256958.2:n.227-72C>T | |
| ENST00000256958.2:c.227-72C>T | ENSP00000256958.2:n.227-72C>T | |
| ENST00000543498.5:c.426-2271C>T | ||
| NM_006446.4:c.227-72C>T , LRG_1022t1:c.227-72C>T | NP_006437.3:n.227-72C>T | |
| NM_006446.5:c.227-72C>T MANE Select | NP_006437.3:n.227-72C>T |