Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.40866963C= , CM000679.2:g.40866963C= | GRCh38 |
| NC_000017.10:g.39023215C= , CM000679.1:g.39023215C= | GRCh37 |
| NC_000017.9:g.36276741C= | NCBI36 |
| NG_008077.1:g.5248G= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000251643.5:c.224G= MANE Select | ENSP00000251643.4:p.Ser75= | |
| ENST00000647902.1:c.211+13G= | ENSP00000497770.1:n.211+13G= | |
| ENST00000251643.4:c.224G= | ENSP00000251643.4:p.Ser75= | |
| NM_000223.3:c.224G= | NP_000214.1:p.Ser75= | |
| XR_934754.1:n.1500+16103C= | ||
| XR_934754.2:n.2008+16103C= | ||
| NM_000223.4:c.224G= MANE Select | NP_000214.1:p.Ser75= |