Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.43015842G>A , CM000677.2:g.43015842G>A | GRCh38 |
| NC_000015.9:g.43308040G>A , CM000677.1:g.43308040G>A | GRCh37 |
| NC_000015.8:g.41095332G>A | NCBI36 |
| NG_012182.1:g.95247C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_174916.3:c.3055C>T MANE Select | NP_777576.1:p.Arg1019Ter |
| ENST00000290650.9:c.3055C>T MANE Select | ENSP00000290650.4:p.Arg1019Ter |
| NM_174916.2:c.3055C>T | NP_777576.1:p.Arg1019Ter |
| ENST00000290650.8:c.3055C>T | ENSP00000290650.4:p.Arg1019Ter |
| ENST00000546274.6:c.3055C>T | ENSP00000477932.1:p.Arg1019Ter |
| ENST00000568782.1:n.28C>T |