Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956766C>A , CM000670.2:g.24956766C>A | GRCh38 |
| NC_000008.10:g.24814280C>A , CM000670.1:g.24814280C>A | GRCh37 |
| NC_000008.9:g.24870197C>A | NCBI36 |
| NG_008492.1:g.4852G>T , LRG_259:g.4852G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-251G>T | ENSP00000482169.1:n.-251G>T | |
| NM_006158.4:c.-251G>T , LRG_259t1:c.-251G>T | NP_006149.2:n.-251G>T |