Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.67511785G>A , CM000680.2:g.67511785G>A | GRCh38 |
| NC_000018.9:g.65179022G>A , CM000680.1:g.65179022G>A | GRCh37 |
| NC_000018.8:g.63330002G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_032160.3:c.2824C>T MANE Select | NP_115536.2:p.Pro942Ser |
| ENST00000310045.9:c.2824C>T MANE Select | ENSP00000310565.8:p.Pro942Ser |
| NM_032160.2:c.2854C>T | NP_115536.1:p.Pro952Ser |
| ENST00000310045.7:c.2854C>T | ENSP00000310565.7:p.Pro952Ser |
| ENST00000310045.8:c.2854C>T | ENSP00000310565.7:p.Pro952Ser |