Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.24259755T>C , CM000676.2:g.24259755T>C | GRCh38 |
| NC_000014.8:g.24728961T>C , CM000676.1:g.24728961T>C | GRCh37 |
| NC_000014.7:g.23798801T>C | NCBI36 |
| NG_007150.1:g.8412A>G | |
| NG_007150.2:g.8412A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000206765.11:c.933A>G MANE Select | ENSP00000206765.6:p.Pro311= | |
| ENST00000206765.10:c.933A>G | ENSP00000206765.6:p.Pro311= | |
| ENST00000544573.5:c.-28-1367A>G | ENSP00000439446.1:n.-28-1367A>G | |
| ENST00000559136.1:c.6A>G | ENSP00000453337.1:p.Pro2= | |
| NM_000359.2:c.933A>G | NP_000350.1:p.Pro311= | |
| NM_000359.3:c.933A>G MANE Select | NP_000350.1:p.Pro311= |