Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.36993319G>A , CM000665.2:g.36993319G>A | GRCh38 |
| NC_000003.11:g.37034810G>A , CM000665.1:g.37034810G>A | GRCh37 |
| NC_000003.10:g.37009814G>A | NCBI36 |
| NG_007109.2:g.4970G>A , LRG_216:g.4970G>A | |
| NG_008418.1:g.4986C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000673673.2:c.-229G>A | ENSP00000500979.2:n.-229G>A |