Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80873118G= , CM000667.2:g.80873118G= | GRCh38 |
| NC_000005.9:g.80168937G= , CM000667.1:g.80168937G= | GRCh37 |
| NC_000005.8:g.80204693G= | NCBI36 |
| NG_016607.1:g.223644G= | |
| NG_016607.2:g.223644G= |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3133G= MANE Select | NP_002430.3:p.Ala1045= |
| ENST00000265081.7:c.3133G= MANE Select | ENSP00000265081.6:p.Ala1045= |
| NM_002439.4:c.3133G= | NP_002430.3:p.Ala1045= |
| ENST00000265081.6:c.3133G= | ENSP00000265081.6:p.Ala1045= |
| ENST00000658259.1:c.2965G= | ENSP00000499617.1:p.Ala989= |
| ENST00000659302.1:c.541G= | |
| ENST00000667069.1:c.2938G= | ENSP00000499502.1:p.Ala980= |
| ENST00000670357.1:c.*457G= | ENSP00000499791.1:n.*457G= |