Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.28003551G= , CM000675.2:g.28003551G= | GRCh38 |
| NC_000013.10:g.28577688G= , CM000675.1:g.28577688G= | GRCh37 |
| NC_000013.9:g.27475688G= | NCBI36 |
| NG_007066.1:g.102018C= , LRG_457:g.102018C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004119.3:c.*501C= MANE Select | NP_004110.2:n.*501C= |
| ENST00000241453.12:c.*501C= MANE Select | ENSP00000241453.7:n.*501C= |
| NM_004119.2:c.*501C= , LRG_457t1:c.*501C= | NP_004110.2:n.*501C= |
| NR_130706.1:n.3697C= | |
| NR_130706.2:n.3681C= | |
| ENST00000241453.11:c.*501C= | ENSP00000241453.7:n.*501C= |