Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.1014228G>C , CM000663.2:g.1014228G>C | GRCh38 |
| NC_000001.10:g.949608G>C , CM000663.1:g.949608G>C | GRCh37 |
| NC_000001.9:g.939471G>C | NCBI36 |
| NG_033033.1:g.5762G>C | |
| NG_033033.2:g.18091G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005101.4:c.248G>C MANE Select | NP_005092.1:p.Ser83Thr |
| ENST00000649529.1:c.248G>C MANE Select | ENSP00000496832.1:p.Ser83Thr |
| NM_005101.3:c.248G>C | NP_005092.1:p.Ser83Thr |
| ENST00000379389.4:c.248G>C | ENSP00000368699.4:p.Ser83Thr |
| ENST00000624652.1:c.224G>C | ENSP00000485313.1:p.Ser75Thr |
| ENST00000624697.3:c.224G>C | ENSP00000485643.1:p.Ser75Thr |
| ENST00000624697.4:c.224G>C | ENSP00000485643.1:p.Ser75Thr |