Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94781858C>A , CM000672.2:g.94781858C>A | GRCh38 |
| NC_000010.10:g.96541615C>A , CM000672.1:g.96541615C>A | GRCh37 |
| NC_000010.9:g.96531605C>A | NCBI36 |
| NG_008384.2:g.24153C>A | |
| NG_008384.3:g.24178C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000769.4:c.680C>A MANE Select | NP_000760.1:p.Pro227Gln |
| ENST00000371321.9:c.680C>A MANE Select | ENSP00000360372.3:p.Pro227Gln |
| NM_000769.2:c.680C>A | NP_000760.1:p.Pro227Gln |
| ENST00000371321.7:c.680C>A | ENSP00000360372.3:p.Pro227Gln |
| ENST00000464755.1:c.1443C>A | ENSP00000483243.1:n.1443C>A |
| ENST00000645461.1:n.1733C>A |