Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83907018C= , CM000678.2:g.83907018C= | GRCh38 |
| NC_000016.9:g.83940623C= , CM000678.1:g.83940623C= | GRCh37 |
| NC_000016.8:g.82498124C= | NCBI36 |
| NG_009079.1:g.12894C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000262430.6:c.560C= MANE Select | ENSP00000262430.4:p.Ser187= | |
| ENST00000262430.5:c.560C= | ENSP00000262430.4:p.Ser187= | |
| NM_012213.2:c.560C= | NP_036345.2:p.Ser187= | |
| NM_012213.3:c.560C= MANE Select | NP_036345.2:p.Ser187= |