Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.148983924C>T , CM000667.2:g.148983924C>T | GRCh38 |
| NC_000005.9:g.148363487C>T , CM000667.1:g.148363487C>T | GRCh37 |
| NC_000005.8:g.148343680C>T | NCBI36 |
| NG_007947.2:g.84251G>A , LRG_269:g.84251G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024577.4:c.*20787G>A MANE Select | NP_078853.2:n.*20787G>A |
| ENST00000515425.6:c.*20787G>A MANE Select | ENSP00000423660.1:n.*20787G>A |
| NM_024577.3:c.*20787G>A , LRG_269t1:c.*20787G>A | NP_078853.2:n.*20787G>A |
| ENST00000504690.5:c.*12+19802G>A | ENSP00000425627.1:n.*12+19802G>A |
| ENST00000510350.1:n.231+22957G>A |