Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.70277473C>T , CM000685.2:g.70277473C>T | GRCh38 |
| NC_000023.10:g.69497323C>T , CM000685.1:g.69497323C>T | GRCh37 |
| NC_000023.9:g.69414048C>T | NCBI36 |
| NG_021267.1:g.302C>T | |
| NG_050734.1:g.18971C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_004312.3:c.553C>T MANE Select | NP_004303.2:p.Arg185Cys |
| ENST00000307959.9:c.553C>T MANE Select | ENSP00000311538.8:p.Arg185Cys |
| NM_004312.2:c.553C>T | NP_004303.2:p.Arg185Cys |
| ENST00000307959.8:c.553C>T | ENSP00000311538.8:p.Arg185Cys |
| ENST00000374495.7:c.553C>T | ENSP00000363619.3:p.Arg185Cys |
| ENST00000620997.4:c.553C>T | ENSP00000480426.1:p.Arg185Cys |
| XM_011530956.1:c.667C>T | XP_011529258.1:p.Arg223Cys |
| XM_017029518.1:c.598C>T | XP_016885007.1:p.Arg200Cys |
| XR_938428.1:n.503+3277G>A | |
| XR_938429.1:n.503+3277G>A |