Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.9760811G= , CM000685.2:g.9760811G= | GRCh38 |
| NC_000023.10:g.9728851G= , CM000685.1:g.9728851G= | GRCh37 |
| NC_000023.9:g.9688851G= | NCBI36 |
| NG_009074.1:g.10067C= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000273.3:c.266C= MANE Select | NP_000264.2:p.Ser89= |
| ENST00000467482.6:c.266C= MANE Select | ENSP00000417161.1:p.Ser89= |
| NM_000273.2:c.266C= | NP_000264.2:p.Ser89= |
| ENST00000431126.1:c.14C= | ENSP00000406138.1:p.Ser5= |
| ENST00000447366.5:c.14C= | ENSP00000390546.2:p.Ser5= |
| ENST00000467482.5:c.266C= | ENSP00000417161.1:p.Ser89= |
| XM_005274541.2:c.266C= | XP_005274598.1:p.Ser89= |
| XM_005274541.3:c.266C= | XP_005274598.1:p.Ser89= |
| XM_024452387.1:c.14C= | XP_024308155.1:p.Ser5= |
| XM_024452388.1:c.14C= | XP_024308156.1:p.Ser5= |