Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45766814G>C , CM000681.2:g.45766814G>C | GRCh38 |
| NC_000019.9:g.46270072G>C , CM000681.1:g.46270072G>C | GRCh37 |
| NC_000019.8:g.50961912G>C | NCBI36 |
| NG_012745.1:g.7426C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000317578.7:c.1145C>G MANE Select | ENSP00000316842.4:p.Thr382Ser | |
| ENST00000317578.6:c.1145C>G | ENSP00000316842.4:p.Thr382Ser | |
| ENST00000560160.1:c.587-703C>G | ||
| ENST00000560168.1:c.*333C>G | ENSP00000453189.2:n.*333C>G | |
| ENST00000622857.1:c.16-852C>G | ENSP00000481365.1:n.16-852C>G | |
| NM_175875.4:c.1145C>G | NP_787071.2:p.Thr382Ser | |
| NM_175875.5:c.1145C>G MANE Select | NP_787071.3:p.Thr382Ser |