Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956620C>A , CM000670.2:g.24956620C>A | GRCh38 |
| NC_000008.10:g.24814134C>A , CM000670.1:g.24814134C>A | GRCh37 |
| NC_000008.9:g.24870051C>A | NCBI36 |
| NG_008492.1:g.4998G>T , LRG_259:g.4998G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-105G>T | ENSP00000482169.1:n.-105G>T | |
| ENST00000615973.1:n.102G>T | ||
| NM_006158.4:c.-105G>T , LRG_259t1:c.-105G>T | NP_006149.2:n.-105G>T |