Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52314690G>A , CM000674.2:g.52314690G>A | GRCh38 |
| NC_000012.11:g.52708474G>A , CM000674.1:g.52708474G>A | GRCh37 |
| NC_000012.10:g.50994741G>A | NCBI36 |
| NG_008352.1:g.11709C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002282.3:c.1423C>T MANE Select | NP_002273.3:p.Pro475Ser |
| ENST00000293670.3:c.1423C>T MANE Select | ENSP00000293670.3:p.Pro475Ser |