Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.19953319A>C , CM000670.2:g.19953319A>C | GRCh38 |
| NC_000008.10:g.19810830A>C , CM000670.1:g.19810830A>C | GRCh37 |
| NC_000008.9:g.19855110A>C | NCBI36 |
| NG_008855.1:g.19249A>C | |
| NG_008855.2:g.56603A>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650287.1:c.439A>C MANE Select | ENSP00000497642.1:p.Asn147His | |
| ENST00000311322.8:c.439A>C | ENSP00000309757.6:p.Asn147His | |
| ENST00000520959.5:c.211A>C | ENSP00000428496.1:p.Asn71His | |
| NM_000237.2:c.439A>C | NP_000228.1:p.Asn147His | |
| NM_000237.3:c.439A>C MANE Select | NP_000228.1:p.Asn147His |