Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80864858G>T , CM000667.2:g.80864858G>T | GRCh38 |
| NC_000005.9:g.80160677G>T , CM000667.1:g.80160677G>T | GRCh37 |
| NC_000005.8:g.80196433G>T | NCBI36 |
| NG_016607.1:g.215384G>T | |
| NG_016607.2:g.215384G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.3046G>T MANE Select | NP_002430.3:p.Glu1016Ter |
| ENST00000265081.7:c.3046G>T MANE Select | ENSP00000265081.6:p.Glu1016Ter |
| NM_002439.4:c.3046G>T | NP_002430.3:p.Glu1016Ter |
| ENST00000265081.6:c.3046G>T | ENSP00000265081.6:p.Glu1016Ter |
| ENST00000658259.1:c.2878G>T | ENSP00000499617.1:p.Glu960Ter |
| ENST00000659302.1:c.454G>T | |
| ENST00000667069.1:c.2851G>T | ENSP00000499502.1:p.Glu951Ter |
| ENST00000670357.1:c.*370G>T | ENSP00000499791.1:n.*370G>T |