Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.80670264T>A , CM000667.2:g.80670264T>A | GRCh38 |
| NC_000005.9:g.79966083T>A , CM000667.1:g.79966083T>A | GRCh37 |
| NC_000005.8:g.80001839T>A | NCBI36 |
| NG_016607.1:g.20790T>A | |
| NG_016607.2:g.20790T>A |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002439.5:c.747T>A MANE Select | NP_002430.3:p.Cys249Ter |
| ENST00000265081.7:c.747T>A MANE Select | ENSP00000265081.6:p.Cys249Ter |
| NM_002439.4:c.747T>A | NP_002430.3:p.Cys249Ter |
| ENST00000265081.6:c.747T>A | ENSP00000265081.6:p.Cys249Ter |
| ENST00000658259.1:c.579T>A | ENSP00000499617.1:p.Cys193Ter |
| ENST00000667069.1:c.747T>A | ENSP00000499502.1:p.Cys249Ter |
| ENST00000670357.1:c.747T>A | ENSP00000499791.1:p.Cys249Ter |