Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.155812340A= , CM000669.2:g.155812340A= | GRCh38 |
| NC_000007.13:g.155605034A= , CM000669.1:g.155605034A= | GRCh37 |
| NC_000007.12:g.155297795A= | NCBI36 |
| NG_007504.2:g.4934T= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297261.7:c.-218T= MANE Select | ENSP00000297261.2:n.-218T= | |
| NM_000193.4:c.-218T= MANE Select | NP_000184.1:n.-218T= |