Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52451690C= , CM000674.2:g.52451690C= | GRCh38 |
| NC_000012.11:g.52845474C= , CM000674.1:g.52845474C= | GRCh37 |
| NC_000012.10:g.51131741C= | NCBI36 |
| NG_008299.1:g.5437G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252252.4:c.389G= MANE Select | ENSP00000252252.3:p.Cys130= | |
| ENST00000252252.3:c.389G= | ENSP00000252252.3:p.Cys130= | |
| NM_005555.3:c.389G= | NP_005546.2:p.Cys130= | |
| NM_005555.4:c.389G= MANE Select | NP_005546.2:p.Cys130= |