Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.27872233T>A , CM000668.2:g.27872233T>A | GRCh38 |
| NC_000006.11:g.27840011T>A , CM000668.1:g.27840011T>A | GRCh37 |
| NC_000006.10:g.27947990T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000616365.2:c.83A>T MANE Select | ENSP00000483283.2:p.Lys28Met | |
| ENST00000616365.1:c.83A>T | ENSP00000483283.1:p.Lys28Met | |
| NM_003533.2:c.83A>T | NP_003524.1:p.Lys28Met | |
| NM_003533.3:c.83A>T MANE Select | NP_003524.1:p.Lys28Met |