Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956708G>T , CM000670.2:g.24956708G>T | GRCh38 |
| NC_000008.10:g.24814222G>T , CM000670.1:g.24814222G>T | GRCh37 |
| NC_000008.9:g.24870139G>T | NCBI36 |
| NG_008492.1:g.4910C>A , LRG_259:g.4910C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-193C>A | ENSP00000482169.1:n.-193C>A | |
| ENST00000615973.1:n.14C>A | ||
| NM_006158.4:c.-193C>A , LRG_259t1:c.-193C>A | NP_006149.2:n.-193C>A |