Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.18121865C>A , CM000668.2:g.18121865C>A | GRCh38 |
| NC_000006.11:g.18122096C>A , CM000668.1:g.18122096C>A | GRCh37 |
| NC_000006.10:g.18230075C>A | NCBI36 |
| NG_016750.1:g.5756G>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_198586.3:c.742G>T MANE Select | NP_940988.2:p.Glu248Ter |
| ENST00000340650.6:c.742G>T MANE Select | ENSP00000345464.3:p.Glu248Ter |
| NM_198586.2:c.742G>T | NP_940988.2:p.Glu248Ter |
| ENST00000340650.4:c.742G>T | ENSP00000345464.3:p.Glu248Ter |