Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.223053103G>A , CM000664.2:g.223053103G>A | GRCh38 |
| NC_000002.11:g.223917821G>A , CM000664.1:g.223917821G>A | GRCh37 |
| NC_000002.10:g.223626065G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000281830.4:c.273G>A MANE Select | ENSP00000281830.5:p.Ser91= | |
| ENST00000281830.3:c.426G>A | ENSP00000281830.4:p.Ser142= | |
| ENST00000488477.2:n.75+829G>A | ||
| NM_080671.3:c.426G>A | NP_542402.3:p.Ser142= | |
| NM_080671.4:c.273G>A MANE Select | NP_542402.4:p.Ser91= |