Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6623374G>A , CM000673.2:g.6623374G>A | GRCh38 |
| NC_000011.9:g.6644605G>A , CM000673.1:g.6644605G>A | GRCh37 |
| NC_000011.8:g.6601181G>A | NCBI36 |
| NG_008653.1:g.1088C>T | |
| NG_033858.1:g.37476C>T | |
| NG_033858.2:g.37476C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000299441.5:c.8302C>T MANE Select | ENSP00000299441.3:p.Arg2768Cys | |
| ENST00000299441.4:c.8302C>T | ENSP00000299441.3:p.Arg2768Cys | |
| NM_003737.3:c.8302C>T | NP_003728.1:p.Arg2768Cys | |
| NM_003737.4:c.8302C>T MANE Select | NP_003728.1:p.Arg2768Cys |