Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956649G>A , CM000670.2:g.24956649G>A | GRCh38 |
| NC_000008.10:g.24814163G>A , CM000670.1:g.24814163G>A | GRCh37 |
| NC_000008.9:g.24870080G>A | NCBI36 |
| NG_008492.1:g.4969C>T , LRG_259:g.4969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-134C>T | ENSP00000482169.1:n.-134C>T | |
| ENST00000615973.1:n.73C>T | ||
| NM_006158.4:c.-134C>T , LRG_259t1:c.-134C>T | NP_006149.2:n.-134C>T |