Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.6870588G>A , CM000670.2:g.6870588G>A | GRCh38 |
| NC_000008.10:g.6728110G>A , CM000670.1:g.6728110G>A | GRCh37 |
| NC_000008.9:g.6715520G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000297439.3:c.*93C>T | ENSP00000297439.3:n.*93C>T | |
| NM_005218.3:c.*93C>T | NP_005209.1:n.*93C>T |