Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.40005362C= , CM000670.2:g.40005362C= | GRCh38 |
| NC_000008.10:g.39862881C= , CM000670.1:g.39862881C= | GRCh37 |
| NC_000008.9:g.39982038C= | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_194294.5:c.703C= MANE Select | NP_919270.3:p.Arg235= |
| ENST00000502986.4:c.703C= MANE Select | ENSP00000443432.2:p.Arg235= |
| NM_001395206.1:c.703C= | NP_001382135.1:p.Arg235= |
| NM_194294.2:c.742C= | NP_919270.2:p.Arg248= |
| NM_194294.3:c.742C= | NP_919270.2:p.Arg248= |
| ENST00000343295.8:n.2971-8203C= | |
| ENST00000389060.8:c.703C= | ENSP00000426447.1:p.Arg235= |
| ENST00000418094.1:n.347-8203C= | |
| ENST00000502986.2:c.742C= | ENSP00000443432.1:p.Arg248= |
| ENST00000502986.3:c.703C= | ENSP00000443432.2:p.Arg235= |