Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.160541501C= , CM000668.2:g.160541501C= | GRCh38 |
| NC_000006.11:g.160962533C= , CM000668.1:g.160962533C= | GRCh37 |
| NC_000006.10:g.160882523C= | NCBI36 |
| NG_016147.1:g.129875G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316300.10:c.5520-320G= MANE Select | ENSP00000321334.6:n.5520-320G= | |
| ENST00000316300.9:c.5520-320G= | ENSP00000321334.5:n.5520-320G= | |
| NM_005577.2:c.5520-320G= | NP_005568.2:n.5520-320G= | |
| NM_005577.3:c.5520-320G= | NP_005568.2:n.5520-320G= | |
| NM_005577.4:c.5520-320G= MANE Select | NP_005568.2:n.5520-320G= |