Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43928826C= , CM000684.2:g.43928826C= | GRCh38 |
| NC_000022.10:g.44324706C= , CM000684.1:g.44324706C= | GRCh37 |
| NC_000022.9:g.42656039C= | NCBI36 |
| NG_008631.1:g.10088C= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.423C= MANE Select | ENSP00000216180.3:p.Ala141= | |
| ENST00000216180.7:c.423C= | ENSP00000216180.3:p.Ala141= | |
| ENST00000406117.6:c.*55C= | ENSP00000384668.2:n.*55C= | |
| ENST00000423180.2:c.411C= | ENSP00000397987.2:p.Ala137= | |
| ENST00000478713.1:n.457C= | ||
| NM_025225.2:c.423C= | NP_079501.2:p.Ala141= | |
| NM_025225.3:c.423C= MANE Select | NP_079501.2:p.Ala141= |