Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.47960212G>C , CM000670.2:g.47960212G>C | GRCh38 |
| NC_000008.10:g.48872772G>C , CM000670.1:g.48872772G>C | GRCh37 |
| NC_000008.9:g.49035325G>C | NCBI36 |
| NG_023435.1:g.4972C>G , LRG_162:g.4972C>G | |
| NG_032967.1:g.5010G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000518221.5:c.-123G>C | ENSP00000430329.1:n.-123G>C | |
| NM_005914.3:c.-933G>C | NP_005905.2:n.-933G>C | |
| NM_182746.2:c.-817G>C | NP_877423.1:n.-817G>C |