Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129528997A>C , CM000665.2:g.129528997A>C | GRCh38 |
| NC_000003.11:g.129247840A>C , CM000665.1:g.129247840A>C | GRCh37 |
| NC_000003.10:g.130730530A>C | NCBI36 |
| NG_009115.1:g.5359A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296271.4:c.264A>C MANE Select | ENSP00000296271.3:p.Leu88= | |
| ENST00000296271.3:c.264A>C | ENSP00000296271.3:p.Leu88= | |
| NM_000539.3:c.264A>C MANE Select | NP_000530.1:p.Leu88= |