Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.36138966C>A , CM000668.2:g.36138966C>A | GRCh38 |
| NC_000006.11:g.36106743C>A , CM000668.1:g.36106743C>A | GRCh37 |
| NC_000006.10:g.36214721C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000211287.9:c.929C>A MANE Select | ENSP00000211287.4:p.Pro310His | |
| ENST00000211287.8:c.929C>A | ENSP00000211287.4:p.Pro310His | |
| ENST00000373759.1:c.*182C>A | ENSP00000362864.1:n.*182C>A | |
| ENST00000373766.9:c.*3C>A | ENSP00000362871.5:n.*3C>A | |
| NM_002754.4:c.929C>A | NP_002745.1:p.Pro310His | |
| NR_072996.1:n.876C>A | ||
| XM_024446491.1:c.695C>A | XP_024302259.1:p.Pro232His | |
| NM_002754.5:c.929C>A MANE Select | NP_002745.1:p.Pro310His | |
| NR_072996.2:n.847C>A |