Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52519778C>G , CM000674.2:g.52519778C>G | GRCh38 |
| NC_000012.11:g.52913562C>G , CM000674.1:g.52913562C>G | GRCh37 |
| NC_000012.10:g.51199829C>G | NCBI36 |
| NG_008297.1:g.5682G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000424.4:c.519G>C MANE Select | NP_000415.2:p.Lys173Asn |
| ENST00000252242.9:c.519G>C MANE Select | ENSP00000252242.4:p.Lys173Asn |
| NM_000424.3:c.519G>C | NP_000415.2:p.Lys173Asn |
| ENST00000252242.8:c.519G>C | ENSP00000252242.4:p.Lys173Asn |
| ENST00000549420.1:c.189G>C | ENSP00000447209.1:p.Lys63Asn |
| ENST00000551275.1:c.414G>C | ENSP00000448041.1:p.Lys138Asn |
| ENST00000552629.5:n.617G>C |