Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.43946287A= , CM000684.2:g.43946287A= | GRCh38 |
| NC_000022.10:g.44342167A= , CM000684.1:g.44342167A= | GRCh37 |
| NC_000022.9:g.42673500A= | NCBI36 |
| NG_008631.1:g.27549A= |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216180.8:c.1351A= MANE Select | ENSP00000216180.3:p.Arg451= | |
| ENST00000216180.7:c.1351A= | ENSP00000216180.3:p.Arg451= | |
| ENST00000406117.6:c.*849+1492A= | ENSP00000384668.2:n.*849+1492A= | |
| ENST00000423180.2:c.1339A= | ENSP00000397987.2:p.Arg447= | |
| NM_025225.2:c.1351A= | NP_079501.2:p.Arg451= | |
| NM_025225.3:c.1351A= MANE Select | NP_079501.2:p.Arg451= |