Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.119320820C>T , CM000666.2:g.119320820C>T | GRCh38 |
| NC_000004.11:g.120241975C>T , CM000666.1:g.120241975C>T | GRCh37 |
| NC_000004.10:g.120461423C>T | NCBI36 |
| NG_011444.1:g.6342G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000274024.4:c.90G>A MANE Select | ENSP00000274024.3:p.Lys30= | |
| ENST00000274024.3:c.90G>A | ENSP00000274024.3:p.Lys30= | |
| NM_000134.3:c.90G>A | NP_000125.2:p.Lys30= | |
| NM_000134.4:c.90G>A MANE Select | NP_000125.2:p.Lys30= |