Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.53132070T>A , CM000668.2:g.53132070T>A | GRCh38 |
| NC_000006.11:g.52996868T>A , CM000668.1:g.52996868T>A | GRCh37 |
| NC_000006.10:g.53104827T>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000259803.8:c.378A>T MANE Select | ENSP00000259803.7:p.Arg126= | |
| ENST00000259803.7:c.378A>T | ENSP00000259803.7:p.Arg126= | |
| NM_003643.3:c.378A>T | NP_003634.2:p.Arg126= | |
| XM_017011390.2:c.564A>T | XP_016866879.1:p.Arg188= | |
| NM_003643.4:c.378A>T MANE Select | NP_003634.2:p.Arg126= |