Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136062674G= , CM000667.2:g.136062674G= | GRCh38 |
| NC_000005.9:g.135398363G= , CM000667.1:g.135398363G= | GRCh37 |
| NC_000005.8:g.135426262G= | NCBI36 |
| NG_012646.1:g.38780G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1998G= MANE Select | NP_000349.1:p.Arg666= |
| ENST00000442011.7:c.1998G= MANE Select | ENSP00000416330.2:p.Arg666= |
| NM_000358.2:c.1998G= | NP_000349.1:p.Arg666= |
| ENST00000442011.6:c.1998G= | ENSP00000416330.2:p.Arg666= |
| ENST00000503087.1:c.213-512G= | |
| ENST00000504411.1:n.402G= | |
| ENST00000506699.5:n.2515G= | |
| ENST00000507018.5:c.1976G= | |
| ENST00000508076.5:c.144G= | ENSP00000423935.1:p.Arg48= |
| ENST00000514554.5:c.1059-512G= |