Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.82148501T= , CM000678.2:g.82148501T= | GRCh38 |
| NC_000016.9:g.82182106T= , CM000678.1:g.82182106T= | GRCh37 |
| NC_000016.8:g.80739607T= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000258169.9:c.*230A= MANE Select | ENSP00000258169.4:n.*230A= | |
| ENST00000258169.8:c.*230A= | ENSP00000258169.4:n.*230A= | |
| ENST00000563100.5:c.*72+158A= | ENSP00000454996.1:n.*72+158A= | |
| NM_005792.2:c.*230A= MANE Select | NP_005783.2:n.*230A= | |
| XM_011522808.1:c.*230A= | XP_011521110.1:n.*230A= | |
| XM_011522808.3:c.*230A= | XP_011521110.1:n.*230A= |