Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946294G= , CM000684.2:g.43946294G= | GRCh38 |
| NC_000022.10:g.44342174G= , CM000684.1:g.44342174G= | GRCh37 |
| NC_000022.9:g.42673507G= | NCBI36 |
| NG_008631.1:g.27556G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_025225.3:c.1358G= MANE Select | NP_079501.2:p.Ser453= |
| ENST00000216180.8:c.1358G= MANE Select | ENSP00000216180.3:p.Ser453= |
| NM_025225.2:c.1358G= | NP_079501.2:p.Ser453= |
| ENST00000216180.7:c.1358G= | ENSP00000216180.3:p.Ser453= |
| ENST00000406117.6:c.*849+1499G= | ENSP00000384668.2:n.*849+1499G= |
| ENST00000423180.2:c.1346G= | ENSP00000397987.2:p.Ser449= |