Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.31193924G>A , CM000678.2:g.31193924G>A | GRCh38 |
| NC_000016.9:g.31205245G>A , CM000678.1:g.31205245G>A | GRCh37 |
| NC_000016.8:g.31112746G>A | NCBI36 |
| NG_012889.2:g.18793G>A , LRG_655:g.18793G>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001170634.1:c.*2486G>A | NP_001164105.1:n.*2486G>A |
| NM_001170937.1:c.*2486G>A | NP_001164408.1:n.*2486G>A |
| NM_004960.3:c.*2486G>A , LRG_655t1:c.*2486G>A | NP_004951.1:n.*2486G>A |
| NR_028388.2:n.4137G>A | |
| ENST00000254108.11:c.*2486G>A | ENSP00000254108.7:n.*2486G>A |