Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.154379271G>A , CM000685.2:g.154379271G>A | GRCh38 |
| NC_000023.10:g.153607631G>A , CM000685.1:g.153607631G>A | GRCh37 |
| NC_000023.9:g.153260825G>A | NCBI36 |
| NG_008677.1:g.9836G>A , LRG_745:g.9836G>A | |
| NG_011506.1:g.376C>T | |
| NG_011506.2:g.368C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369842.8:c.-214G>A | ENSP00000358857.4:n.-214G>A | |
| NM_000117.2:c.-214G>A , LRG_745t1:c.-214G>A | NP_000108.1:n.-214G>A | |
| XM_024452349.1:c.-422G>A | XP_024308117.1:n.-422G>A |