Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52433789G= , CM000674.2:g.52433789G= | GRCh38 |
| NC_000012.11:g.52827573G= , CM000674.1:g.52827573G= | GRCh37 |
| NC_000012.10:g.51113840G= | NCBI36 |
| NG_008403.1:g.5538C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252245.6:c.498+18C= MANE Select | ENSP00000252245.5:n.498+18C= | |
| ENST00000252245.5:c.498+18C= | ENSP00000252245.5:n.498+18C= | |
| NM_004693.2:c.498+18C= | NP_004684.2:n.498+18C= | |
| NM_004693.3:c.498+18C= MANE Select | NP_004684.2:n.498+18C= |