Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148993122G>A , CM000667.2:g.148993122G>A | GRCh38 |
| NC_000005.9:g.148372685G>A , CM000667.1:g.148372685G>A | GRCh37 |
| NC_000005.8:g.148352878G>A | NCBI36 |
| NG_007947.2:g.75053C>T , LRG_269:g.75053C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*11589C>T MANE Select | NP_078853.2:n.*11589C>T |
| ENST00000515425.6:c.*11589C>T MANE Select | ENSP00000423660.1:n.*11589C>T |
| NM_024577.3:c.*11589C>T , LRG_269t1:c.*11589C>T | NP_078853.2:n.*11589C>T |
| ENST00000504690.5:c.*12+10604C>T | ENSP00000425627.1:n.*12+10604C>T |
| ENST00000510350.1:n.231+13759C>T |