Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12887192C= , CM000681.2:g.12887192C= | GRCh38 |
| NC_000019.9:g.12998006C= , CM000681.1:g.12998006C= | GRCh37 |
| NC_000019.8:g.12859006C= | NCBI36 |
| NG_009292.1:g.1033C= | |
| NG_013087.1:g.5012G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264834.6:c.-52G= MANE Select | ENSP00000264834.3:n.-52G= | |
| NM_006563.3:c.-52G= | NP_006554.1:n.-52G= | |
| NM_006563.4:c.-52G= | NP_006554.1:n.-52G= | |
| NM_006563.5:c.-52G= MANE Select | NP_006554.1:n.-52G= |