Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.136060898G= , CM000667.2:g.136060898G= | GRCh38 |
| NC_000005.9:g.135396587G= , CM000667.1:g.135396587G= | GRCh37 |
| NC_000005.8:g.135424486G= | NCBI36 |
| NG_012646.1:g.37004G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_000358.3:c.1868G= MANE Select | NP_000349.1:p.Gly623= |
| ENST00000442011.7:c.1868G= MANE Select | ENSP00000416330.2:p.Gly623= |
| NM_000358.2:c.1868G= | NP_000349.1:p.Gly623= |
| ENST00000442011.6:c.1868G= | ENSP00000416330.2:p.Gly623= |
| ENST00000503087.1:c.94G= | |
| ENST00000506699.5:n.2385G= | |
| ENST00000507018.5:c.1846G= | |
| ENST00000508076.5:c.14G= | ENSP00000423935.1:p.Gly5= |
| ENST00000513497.1:n.513G= | |
| ENST00000514554.5:c.1020G= |