Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.28863878T= , CM000663.2:g.28863878T= | GRCh38 |
| NC_000001.10:g.29190390T= , CM000663.1:g.29190390T= | GRCh37 |
| NC_000001.9:g.29062977T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000234961.7:c.*595T= MANE Select | ENSP00000234961.2:n.*595T= | |
| ENST00000234961.6:c.*595T= | ENSP00000234961.2:n.*595T= | |
| NM_000911.4:c.*595T= MANE Select | NP_000902.3:n.*595T= |