Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114731326C>T , CM000685.2:g.114731326C>T | GRCh38 |
| NG_012082.3:g.152242C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000868.4:c.68C>T MANE Select | NP_000859.2:p.Ser23Phe |
| ENST00000276198.6:c.68C>T MANE Select | ENSP00000276198.1:p.Ser23Phe |
| NM_001256760.3:c.68C>T | NP_001243689.2:p.Ser23Phe |
| NM_001256761.3:c.68C>T | NP_001243690.2:p.Ser23Phe |
| ENST00000276198.5:c.68C>T | ENSP00000276198.1:p.Ser23Phe |
| ENST00000371950.3:c.68C>T | ENSP00000361018.3:p.Ser23Phe |
| ENST00000371951.5:c.68C>T | ENSP00000361019.1:p.Ser23Phe |
| XR_001755943.1:n.209-550G>A | |
| XR_944300.1:n.209-550G>A | |
| XR_944301.1:n.209-550G>A |