Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000013.11:g.27924755A>G , CM000675.2:g.27924755A>G | GRCh38 |
| NC_000013.10:g.28498892A>G , CM000675.1:g.28498892A>G | GRCh37 |
| NC_000013.9:g.27396892A>G | NCBI36 |
| NG_008183.1:g.9725A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000381033.5:c.*54A>G MANE Select | ENSP00000370421.4:n.*54A>G | |
| ENST00000381033.4:c.*54A>G | ENSP00000370421.4:n.*54A>G | |
| NM_000209.3:c.*54A>G | NP_000200.1:n.*54A>G | |
| NM_000209.4:c.*54A>G MANE Select | NP_000200.1:n.*54A>G |