Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94780505C>A , CM000672.2:g.94780505C>A | GRCh38 |
| NC_000010.10:g.96540262C>A , CM000672.1:g.96540262C>A | GRCh37 |
| NC_000010.9:g.96530252C>A | NCBI36 |
| NG_008384.2:g.22800C>A | |
| NG_008384.3:g.22825C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.488C>A MANE Select | NP_000760.1:p.Pro163His |
| ENST00000371321.9:c.488C>A MANE Select | ENSP00000360372.3:p.Pro163His |
| NM_000769.2:c.488C>A | NP_000760.1:p.Pro163His |
| ENST00000371321.7:c.488C>A | ENSP00000360372.3:p.Pro163His |
| ENST00000464755.1:c.1251C>A | ENSP00000483243.1:n.1251C>A |
| ENST00000645461.1:n.1541C>A |