Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.83907018C>G , CM000678.2:g.83907018C>G | GRCh38 |
| NC_000016.9:g.83940623C>G , CM000678.1:g.83940623C>G | GRCh37 |
| NC_000016.8:g.82498124C>G | NCBI36 |
| NG_009079.1:g.12894C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012213.3:c.560C>G MANE Select | NP_036345.2:p.Ser187Ter |
| ENST00000262430.6:c.560C>G MANE Select | ENSP00000262430.4:p.Ser187Ter |
| NM_012213.2:c.560C>G | NP_036345.2:p.Ser187Ter |
| ENST00000262430.5:c.560C>G | ENSP00000262430.4:p.Ser187Ter |