Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94762713C>A , CM000672.2:g.94762713C>A | GRCh38 |
| NC_000010.10:g.96522470C>A , CM000672.1:g.96522470C>A | GRCh37 |
| NC_000010.9:g.96512460C>A | NCBI36 |
| NG_008384.2:g.5008C>A | |
| NG_008384.3:g.5033C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000371321.9:c.8C>A MANE Select | ENSP00000360372.3:p.Pro3His | |
| ENST00000371321.7:c.8C>A | ENSP00000360372.3:p.Pro3His | |
| ENST00000464755.1:c.932-12345C>A | ENSP00000483243.1:n.932-12345C>A | |
| ENST00000480405.2:c.8C>A | ENSP00000483847.1:p.Pro3His | |
| NM_000769.2:c.8C>A | NP_000760.1:p.Pro3His | |
| NM_000769.4:c.8C>A MANE Select | NP_000760.1:p.Pro3His |