Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519119C>A , CM000674.2:g.52519119C>A | GRCh38 |
| NC_000012.11:g.52912903C>A , CM000674.1:g.52912903C>A | GRCh37 |
| NC_000012.10:g.51199170C>A | NCBI36 |
| NG_008297.1:g.6341G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.597G>T MANE Select | NP_000415.2:p.Lys199Asn |
| ENST00000252242.9:c.597G>T MANE Select | ENSP00000252242.4:p.Lys199Asn |
| NM_000424.3:c.597G>T | NP_000415.2:p.Lys199Asn |
| ENST00000252242.8:c.597G>T | ENSP00000252242.4:p.Lys199Asn |
| ENST00000549420.1:c.267G>T | ENSP00000447209.1:p.Lys89Asn |
| ENST00000551013.1:n.125G>T | |
| ENST00000552629.5:n.695G>T |