Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.2299442T>G , CM000678.2:g.2299442T>G | GRCh38 |
| NC_000016.9:g.2349443T>G , CM000678.1:g.2349443T>G | GRCh37 |
| NC_000016.8:g.2289444T>G | NCBI36 |
| NG_011790.1:g.46305A>C |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001089.3:c.1702A>C MANE Select | NP_001080.2:p.Asn568His |
| ENST00000301732.10:c.1702A>C MANE Select | ENSP00000301732.5:p.Asn568His |
| NM_001089.2:c.1702A>C | NP_001080.2:p.Asn568His |
| ENST00000301732.9:c.1702A>C | ENSP00000301732.5:p.Asn568His |
| ENST00000382381.7:c.1528A>C | ENSP00000371818.3:p.Asn510His |
| ENST00000563623.5:n.2265A>C |