Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.5043940G= , CM000674.2:g.5043940G= | GRCh38 |
| NC_000012.11:g.5153106G= , CM000674.1:g.5153106G= | GRCh37 |
| NC_000012.10:g.5023367G= | NCBI36 |
| NG_012198.1:g.5022G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252321.5:c.-208G= MANE Select | ENSP00000252321.3:n.-208G= | |
| NM_002234.3:c.-208G= | NP_002225.2:n.-208G= | |
| NM_002234.4:c.-208G= MANE Select | NP_002225.2:n.-208G= |