Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.129532724G>C , CM000665.2:g.129532724G>C | GRCh38 |
| NC_000003.11:g.129251567G>C , CM000665.1:g.129251567G>C | GRCh37 |
| NC_000003.10:g.130734257G>C | NCBI36 |
| NG_009115.1:g.9086G>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000539.3:c.888G>C MANE Select | NP_000530.1:p.Lys296Asn |
| ENST00000296271.4:c.888G>C MANE Select | ENSP00000296271.3:p.Lys296Asn |
| ENST00000296271.3:c.888G>C | ENSP00000296271.3:p.Lys296Asn |