Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.7135836A= , CM000674.2:g.7135836A= | GRCh38 |
| NC_000012.11:g.7288432A= , CM000674.1:g.7288432A= | GRCh37 |
| NC_000012.10:g.7179699A= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014718.4:c.625A= MANE Select | NP_055533.2:p.Ser209= |
| ENST00000266546.11:c.625A= MANE Select | ENSP00000266546.6:p.Ser209= |
| NM_014718.3:c.625A= | NP_055533.2:p.Ser209= |
| ENST00000266546.10:c.625A= | ENSP00000266546.6:p.Ser209= |
| ENST00000537408.1:c.661A= | ENSP00000440679.1:p.Ser221= |
| ENST00000540931.1:n.120A= | |
| ENST00000541667.5:n.352A= | |
| XM_006719163.2:c.661A= | XP_006719226.1:p.Ser221= |
| XM_006719163.4:c.661A= | XP_006719226.1:p.Ser221= |