Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80670155T>G , CM000667.2:g.80670155T>G | GRCh38 |
| NC_000005.9:g.79965974T>G , CM000667.1:g.79965974T>G | GRCh37 |
| NC_000005.8:g.80001730T>G | NCBI36 |
| NG_016607.1:g.20681T>G | |
| NG_016607.2:g.20681T>G |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.638T>G MANE Select | NP_002430.3:p.Leu213Ter |
| ENST00000265081.7:c.638T>G MANE Select | ENSP00000265081.6:p.Leu213Ter |
| NM_002439.4:c.638T>G | NP_002430.3:p.Leu213Ter |
| ENST00000265081.6:c.638T>G | ENSP00000265081.6:p.Leu213Ter |
| ENST00000658259.1:c.470T>G | ENSP00000499617.1:p.Leu157Ter |
| ENST00000667069.1:c.638T>G | ENSP00000499502.1:p.Leu213Ter |
| ENST00000670357.1:c.638T>G | ENSP00000499791.1:p.Leu213Ter |