Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928857A= , CM000684.2:g.43928857A= | GRCh38 |
| NC_000022.10:g.44324737A= , CM000684.1:g.44324737A= | GRCh37 |
| NC_000022.9:g.42656070A= | NCBI36 |
| NG_008631.1:g.10119A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.454A= MANE Select | ENSP00000216180.3:p.Ser152= | |
| ENST00000216180.7:c.454A= | ENSP00000216180.3:p.Ser152= | |
| ENST00000406117.6:c.*86A= | ENSP00000384668.2:n.*86A= | |
| ENST00000423180.2:c.442A= | ENSP00000397987.2:p.Ser148= | |
| ENST00000478713.1:n.488A= | ||
| NM_025225.2:c.454A= | NP_079501.2:p.Ser152= | |
| NM_025225.3:c.454A= MANE Select | NP_079501.2:p.Ser152= |