Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956616T>C , CM000670.2:g.24956616T>C | GRCh38 |
| NC_000008.10:g.24814130T>C , CM000670.1:g.24814130T>C | GRCh37 |
| NC_000008.9:g.24870047T>C | NCBI36 |
| NG_008492.1:g.5002A>G , LRG_259:g.5002A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-101A>G | ENSP00000482169.1:n.-101A>G | |
| ENST00000615973.1:n.106A>G | ||
| NM_006158.4:c.-101A>G , LRG_259t1:c.-101A>G | NP_006149.2:n.-101A>G |