Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.114731326C>G , CM000685.2:g.114731326C>G | GRCh38 |
| NG_012082.3:g.152242C>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000868.4:c.68C>G MANE Select | NP_000859.2:p.Ser23Cys |
| ENST00000276198.6:c.68C>G MANE Select | ENSP00000276198.1:p.Ser23Cys |
| NM_001256760.3:c.68C>G | NP_001243689.2:p.Ser23Cys |
| NM_001256761.3:c.68C>G | NP_001243690.2:p.Ser23Cys |
| ENST00000276198.5:c.68C>G | ENSP00000276198.1:p.Ser23Cys |
| ENST00000371950.3:c.68C>G | ENSP00000361018.3:p.Ser23Cys |
| ENST00000371951.5:c.68C>G | ENSP00000361019.1:p.Ser23Cys |
| XR_001755943.1:n.209-550G>C | |
| XR_944300.1:n.209-550G>C | |
| XR_944301.1:n.209-550G>C |