Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.8075600C= , CM000679.2:g.8075600C= | GRCh38 |
| NC_000017.10:g.7978918C= , CM000679.1:g.7978918C= | GRCh37 |
| NC_000017.9:g.7919643C= | NCBI36 |
| NG_007099.1:g.17104G= | |
| NG_007099.2:g.17117G= |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647874.1:c.1649G= MANE Select | ENSP00000497784.1:p.Ser550= | |
| ENST00000649809.1:c.713G= | ENSP00000496845.1:p.Ser238= | |
| ENST00000319144.4:c.1649G= | ENSP00000315167.4:p.Ser550= | |
| ENST00000577351.5:n.479+575G= | ||
| NM_001139.2:c.1649G= | NP_001130.1:p.Ser550= | |
| NM_001139.3:c.1649G= MANE Select | NP_001130.1:p.Ser550= |