Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.82032437C>G , CM000679.2:g.82032437C>G | GRCh38 |
| NC_000017.10:g.79990313C>G , CM000679.1:g.79990313C>G | GRCh37 |
| NC_000017.9:g.77583602C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005052.3:c.86C>G MANE Select | NP_005043.1:p.Pro29Arg |
| ENST00000306897.9:c.86C>G MANE Select | ENSP00000304283.4:p.Pro29Arg |
| NM_001316307.1:c.86C>G | NP_001303236.1:p.Pro29Arg |
| NM_001316307.2:c.86C>G | NP_001303236.1:p.Pro29Arg |
| NM_005052.2:c.86C>G | NP_005043.1:p.Pro29Arg |
| ENST00000306897.8:c.86C>G | ENSP00000304283.4:p.Pro29Arg |
| ENST00000580965.5:c.-47C>G | ENSP00000463590.1:n.-47C>G |
| ENST00000584341.1:c.-87C>G | ENSP00000462421.1:n.-87C>G |