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