Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.24956675C>G , CM000670.2:g.24956675C>G | GRCh38 |
| NC_000008.10:g.24814189C>G , CM000670.1:g.24814189C>G | GRCh37 |
| NC_000008.9:g.24870106C>G | NCBI36 |
| NG_008492.1:g.4943G>C , LRG_259:g.4943G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000610854.1:c.-160G>C | ENSP00000482169.1:n.-160G>C | |
| ENST00000615973.1:n.47G>C | ||
| NM_006158.4:c.-160G>C , LRG_259t1:c.-160G>C | NP_006149.2:n.-160G>C |