Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.16940365G>A , CM000679.2:g.16940365G>A | GRCh38 |
| NC_000017.10:g.16843679G>A , CM000679.1:g.16843679G>A | GRCh37 |
| NC_000017.9:g.16784404G>A | NCBI36 |
| NG_007281.1:g.36724C>T , LRG_120:g.36724C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_012452.3:c.592C>T MANE Select | NP_036584.1:p.Arg198Cys |
| ENST00000261652.7:c.592C>T MANE Select | ENSP00000261652.2:p.Arg198Cys |
| NM_012452.2:c.592C>T , LRG_120t1:c.592C>T | NP_036584.1:p.Arg198Cys |
| ENST00000261652.6:c.592C>T | ENSP00000261652.2:p.Arg198Cys |
| ENST00000579009.1:n.698C>T | |
| ENST00000579315.5:c.446-7189C>T | ENSP00000464069.1:n.446-7189C>T |
| ENST00000582931.5:n.350-7428C>T | |
| ENST00000583789.1:c.454C>T | ENSP00000462952.1:p.Arg152Cys |
| ENST00000584950.5:c.454C>T | ENSP00000463582.1:p.Arg152Cys |