Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.42536419C= , CM000679.2:g.42536419C= | GRCh38 |
| NC_000017.10:g.40688437C= , CM000679.1:g.40688437C= | GRCh37 |
| NC_000017.9:g.37941963C= | NCBI36 |
| NG_011552.1:g.5487C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000225927.7:c.147C= MANE Select | ENSP00000225927.1:p.Ser49= | |
| ENST00000225927.6:c.147C= | ENSP00000225927.1:p.Ser49= | |
| NM_000263.3:c.147C= | NP_000254.2:p.Ser49= | |
| XM_024450771.1:c.147C= | XP_024306539.1:p.Ser49= | |
| NM_000263.4:c.147C= MANE Select | NP_000254.2:p.Ser49= |