Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39731826T>C , CM000664.2:g.39731826T>C | GRCh38 |
| NC_000002.11:g.39958966T>C , CM000664.1:g.39958966T>C | GRCh37 |
| NC_000002.10:g.39812470T>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| XM_024452702.1:c.401-3403T>C | XP_024308470.1:n.401-3403T>C |