Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.80476158G>C , CM000679.2:g.80476158G>C | GRCh38 |
| NC_000017.10:g.78449958G>C , CM000679.1:g.78449958G>C | GRCh37 |
| NC_000017.9:g.76064553G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306773.5:c.289C>G MANE Select | ENSP00000307549.4:p.Pro97Ala | |
| ENST00000306773.4:c.289C>G | ENSP00000307549.4:p.Pro97Ala | |
| ENST00000575212.1:n.234-440C>G | ||
| NM_002522.3:c.289C>G | NP_002513.2:p.Pro97Ala | |
| NM_002522.4:c.289C>G MANE Select | NP_002513.2:p.Pro97Ala |