Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.293162C>G , CM000674.2:g.293162C>G | GRCh38 |
| NC_000012.11:g.402328C>G , CM000674.1:g.402328C>G | GRCh37 |
| NC_000012.10:g.272589C>G | NCBI36 |
| NG_046993.1:g.101294G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399788.7:c.4463G>C MANE Select | ENSP00000382688.2:p.Ser1488Thr | |
| ENST00000382815.8:c.4478G>C | ENSP00000372265.5:p.Ser1493Thr | |
| ENST00000399788.6:c.4463G>C | ENSP00000382688.2:p.Ser1488Thr | |
| NM_001042603.2:c.4463G>C | NP_001036068.1:p.Ser1488Thr | |
| NM_001042603.3:c.4463G>C MANE Select | NP_001036068.1:p.Ser1488Thr |