Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80778790G>T , CM000667.2:g.80778790G>T | GRCh38 |
| NC_000005.9:g.80074609G>T , CM000667.1:g.80074609G>T | GRCh37 |
| NC_000005.8:g.80110365G>T | NCBI36 |
| NG_016607.1:g.129316G>T | |
| NG_016607.2:g.129316G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.2389G>T MANE Select | NP_002430.3:p.Glu797Ter |
| ENST00000265081.7:c.2389G>T MANE Select | ENSP00000265081.6:p.Glu797Ter |
| NM_002439.4:c.2389G>T | NP_002430.3:p.Glu797Ter |
| ENST00000265081.6:c.2389G>T | ENSP00000265081.6:p.Glu797Ter |
| ENST00000658259.1:c.2221G>T | ENSP00000499617.1:p.Glu741Ter |
| ENST00000667069.1:c.2194G>T | ENSP00000499502.1:p.Glu732Ter |
| ENST00000670357.1:c.2389G>T | ENSP00000499791.1:p.Glu797Ter |