Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.114043906A= , CM000672.2:g.114043906A= | GRCh38 |
| NC_000010.10:g.115803665A= , CM000672.1:g.115803665A= | GRCh37 |
| NC_000010.9:g.115793655A= | NCBI36 |
| NG_012187.1:g.4860A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369295.4:c.-227A= MANE Select | ENSP00000358301.2:n.-227A= | |
| NM_000684.3:c.-227A= MANE Select | NP_000675.1:n.-227A= |