Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.153729346T>C , CM000685.2:g.153729346T>C | GRCh38 |
| NC_000023.10:g.152994801T>C , CM000685.1:g.152994801T>C | GRCh37 |
| NC_000023.9:g.152647995T>C | NCBI36 |
| NG_009022.2:g.9479T>C | |
| NG_023231.1:g.401A>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000033.4:c.1015T>C MANE Select | NP_000024.2:p.Trp339Arg |
| ENST00000218104.6:c.1015T>C MANE Select | ENSP00000218104.3:p.Trp339Arg |
| NM_000033.3:c.1015T>C | NP_000024.2:p.Trp339Arg |
| ENST00000218104.5:c.1015T>C | ENSP00000218104.3:p.Trp339Arg |
| ENST00000370129.4:c.460T>C | ENSP00000359147.3:p.Trp154Arg |
| XR_938507.1:n.1431T>C | |
| XR_938507.2:n.1431T>C |