Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.28910937G>C , CM000678.2:g.28910937G>C | GRCh38 |
| NC_000016.9:g.28922258G>C , CM000678.1:g.28922258G>C | GRCh37 |
| NC_000016.8:g.28829759G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_024816.3:c.1040C>G MANE Select | NP_079092.2:p.Thr347Ser |
| ENST00000358201.9:c.1040C>G MANE Select | ENSP00000350934.4:p.Thr347Ser |
| NM_024816.2:c.1040C>G | NP_079092.2:p.Thr347Ser |
| ENST00000357573.10:c.944C>G | ENSP00000350186.6:p.Thr315Ser |
| ENST00000358201.8:c.1040C>G | ENSP00000350934.4:p.Thr347Ser |
| ENST00000544477.5:c.827C>G | ENSP00000442798.1:p.Thr276Ser |
| ENST00000562590.5:n.1561C>G |