Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.57236096G>A , CM000673.2:g.57236096G>A | GRCh38 |
| NC_000011.9:g.57003570G>A , CM000673.1:g.57003570G>A | GRCh37 |
| NC_000011.8:g.56760146G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_005161.6:c.909C>T MANE Select | NP_005152.1:p.Cys303= |
| ENST00000606794.2:c.909C>T MANE Select | ENSP00000475344.1:p.Cys303= |
| NM_005161.4:c.909C>T | NP_005152.1:p.Cys303= |
| NR_027991.1:n.1358C>T | |
| NR_027991.2:n.1155C>T | |
| ENST00000257254.3:c.909C>T | ENSP00000257254.3:p.Cys303= |
| ENST00000606794.1:c.909C>T | ENSP00000475344.1:p.Cys303= |
| ENST00000611099.1:c.909C>T | ENSP00000477818.1:p.Cys303= |