Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52652119T>C , CM000674.2:g.52652119T>C | GRCh38 |
| NC_000012.11:g.53045903T>C , CM000674.1:g.53045903T>C | GRCh37 |
| NC_000012.10:g.51332170T>C | NCBI36 |
| NG_008296.1:g.5057A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309680.4:c.24A>G MANE Select | ENSP00000310861.3:p.Lys8= | |
| ENST00000309680.3:c.24A>G | ENSP00000310861.3:p.Lys8= | |
| NM_000423.2:c.24A>G | NP_000414.2:p.Lys8= | |
| NM_000423.3:c.24A>G MANE Select | NP_000414.2:p.Lys8= |