Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.42976795A>G , CM000677.2:g.42976795A>G | GRCh38 |
| NC_000015.9:g.43268993A>G , CM000677.1:g.43268993A>G | GRCh37 |
| NC_000015.8:g.41056285A>G | NCBI36 |
| NG_012182.1:g.134294T>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.4291T>C MANE Select | NP_777576.1:p.Ser1431Pro |
| ENST00000290650.9:c.4291T>C MANE Select | ENSP00000290650.4:p.Ser1431Pro |
| NM_174916.2:c.4291T>C | NP_777576.1:p.Ser1431Pro |
| ENST00000290650.8:c.4291T>C | ENSP00000290650.4:p.Ser1431Pro |