Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812302C= , CM000669.2:g.155812302C= | GRCh38 |
| NC_000007.13:g.155604996C= , CM000669.1:g.155604996C= | GRCh37 |
| NC_000007.12:g.155297757C= | NCBI36 |
| NG_007504.2:g.4972G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-180G= MANE Select | ENSP00000297261.2:n.-180G= | |
| NM_000193.4:c.-180G= MANE Select | NP_000184.1:n.-180G= |