Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23403422A>C , CM000676.2:g.23403422A>C | GRCh38 |
| NC_000014.8:g.23872631A>C , CM000676.1:g.23872631A>C | GRCh37 |
| NC_000014.7:g.22942471A>C | NCBI36 |
| NG_023444.1:g.9856T>G , LRG_389:g.9856T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002471.4:c.824T>G MANE Select | NP_002462.2:p.Ile275Ser |
| ENST00000405093.9:c.824T>G MANE Select | ENSP00000386041.3:p.Ile275Ser |
| NM_002471.3:c.824T>G , LRG_389t1:c.824T>G | NP_002462.2:p.Ile275Ser |
| ENST00000356287.3:c.824T>G | ENSP00000348634.3:p.Ile275Ser |
| ENST00000405093.7:c.824T>G | ENSP00000386041.3:p.Ile275Ser |
| ENST00000557461.1:n.878T>G | |
| ENST00000557461.2:n.891T>G |