Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.13819013C>A , CM000665.2:g.13819013C>A | GRCh38 |
| NC_000003.11:g.13860510C>A , CM000665.1:g.13860510C>A | GRCh37 |
| NC_000003.10:g.13835511C>A | NCBI36 |
| NG_008088.1:g.66109G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004625.4:c.981G>T MANE Select | NP_004616.2:p.Lys327Asn |
| ENST00000285018.5:c.981G>T MANE Select | ENSP00000285018.4:p.Lys327Asn |
| NM_004625.3:c.981G>T | NP_004616.2:p.Lys327Asn |
| ENST00000285018.4:c.981G>T | ENSP00000285018.4:p.Lys327Asn |
| XM_011534090.1:c.780G>T | XP_011532392.1:p.Lys260Asn |
| XM_011534091.1:c.780G>T | XP_011532393.1:p.Lys260Asn |
| XM_011534091.2:c.780G>T | XP_011532393.1:p.Lys260Asn |