Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42990030G>A , CM000677.2:g.42990030G>A | GRCh38 |
| NC_000015.9:g.43282228G>A , CM000677.1:g.43282228G>A | GRCh37 |
| NC_000015.8:g.41069520G>A | NCBI36 |
| NG_012182.1:g.121059C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.3848C>T MANE Select | NP_777576.1:p.Ser1283Leu |
| ENST00000290650.9:c.3848C>T MANE Select | ENSP00000290650.4:p.Ser1283Leu |
| NM_174916.2:c.3848C>T | NP_777576.1:p.Ser1283Leu |
| ENST00000290650.8:c.3848C>T | ENSP00000290650.4:p.Ser1283Leu |
| ENST00000566493.1:n.123C>T |