Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.118933071C= , CM000670.2:g.118933071C= | GRCh38 |
| NC_000008.10:g.119945310C= , CM000670.1:g.119945310C= | GRCh37 |
| NC_000008.9:g.120014491C= | NCBI36 |
| NG_012202.1:g.24074G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002546.4:c.260G= MANE Select | NP_002537.3:p.Cys87= |
| ENST00000297350.9:c.260G= MANE Select | ENSP00000297350.4:p.Cys87= |
| NM_002546.3:c.260G= | NP_002537.3:p.Cys87= |
| ENST00000297350.8:c.260G= | ENSP00000297350.4:p.Cys87= |
| ENST00000517352.1:c.260G= | ENSP00000427924.1:p.Cys87= |