Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49969672C>T , CM000679.2:g.49969672C>T | GRCh38 |
| NC_000017.10:g.48047036C>T , CM000679.1:g.48047036C>T | GRCh37 |
| NC_000017.9:g.45402035C>T | NCBI36 |
| NG_030592.1:g.5475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000706528.1:n.1085C>T | ||
| ENST00000240306.5:c.204C>T MANE Select | ENSP00000240306.3:p.Ser68= | |
| ENST00000240306.4:c.204C>T | ENSP00000240306.3:p.Ser68= | |
| ENST00000503410.1:n.128C>T | ||
| ENST00000505318.2:n.343C>T | ||
| NM_138281.2:c.204C>T | NP_612138.1:p.Ser68= | |
| XM_017024291.1:c.-406C>T | XP_016879780.1:n.-406C>T | |
| NM_138281.3:c.204C>T MANE Select | NP_612138.1:p.Ser68= |