Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.19119783C>G , CM000671.2:g.19119783C>G | GRCh38 |
| NC_000009.11:g.19119781C>G , CM000671.1:g.19119781C>G | GRCh37 |
| NC_000009.10:g.19109781C>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001122.4:c.644G>C MANE Select | NP_001113.2:p.Ser215Thr |
| ENST00000276914.7:c.644G>C MANE Select | ENSP00000276914.2:p.Ser215Thr |
| NM_001122.3:c.644G>C | NP_001113.2:p.Ser215Thr |
| NR_038064.1:n.941G>C | |
| NR_038064.2:n.827G>C | |
| ENST00000276914.6:c.644G>C | ENSP00000276914.2:p.Ser215Thr |
| XM_006716719.1:c.644G>C | XP_006716782.1:p.Ser215Thr |
| XM_017014259.2:c.644G>C | XP_016869748.1:p.Ser215Thr |