Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.66230600C>A , CM000673.2:g.66230600C>A | GRCh38 |
| NC_000011.9:g.65998071C>A , CM000673.1:g.65998071C>A | GRCh37 |
| NC_000011.8:g.65754647C>A | NCBI36 |
| NG_033900.1:g.165248C>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_018026.4:c.1427C>A MANE Select | NP_060496.2:p.Pro476Gln |
| ENST00000320580.9:c.1427C>A MANE Select | ENSP00000316454.4:p.Pro476Gln |
| NM_018026.3:c.1427C>A | NP_060496.2:p.Pro476Gln |
| ENST00000320580.8:c.1427C>A | ENSP00000316454.4:p.Pro476Gln |
| ENST00000529757.5:c.35C>A | ENSP00000432858.1:p.Pro12Gln |
| XM_011545162.1:c.1106C>A | XP_011543464.1:p.Pro369Gln |
| XM_011545163.1:c.1097C>A | XP_011543465.1:p.Pro366Gln |
| XM_011545164.1:c.1088C>A | XP_011543466.1:p.Pro363Gln |
| XM_011545164.2:c.1088C>A | XP_011543466.1:p.Pro363Gln |