Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.21196975C= , CM000674.2:g.21196975C= | GRCh38 |
| NC_000012.11:g.21349909C= , CM000674.1:g.21349909C= | GRCh37 |
| NC_000012.10:g.21241176C= | NCBI36 |
| NG_011745.1:g.70782C= , LRG_1022:g.70782C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_006446.5:c.757C= MANE Select | NP_006437.3:p.Arg253= |
| ENST00000256958.3:c.757C= MANE Select | ENSP00000256958.2:p.Arg253= |
| NM_006446.4:c.757C= , LRG_1022t1:c.757C= | NP_006437.3:p.Arg253= |
| ENST00000256958.2:c.757C= | ENSP00000256958.2:p.Arg253= |