Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.227871320C= , CM000664.2:g.227871320C= | GRCh38 |
| NC_000002.11:g.228736036C= , CM000664.1:g.228736036C= | GRCh37 |
| NC_000002.10:g.228444280C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| ENST00000373666.6:c.-370C= | ENSP00000362770.2:n.-370C= |
| XM_011510755.1:c.-467C= | XP_011509057.1:n.-467C= |