Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.175014734G>A , CM000663.2:g.175014734G>A | GRCh38 |
| NC_000001.10:g.174983870G>A , CM000663.1:g.174983870G>A | GRCh37 |
| NC_000001.9:g.173250493G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_022100.3:c.322C>T MANE Select | NP_071383.1:p.Arg108Cys |
| ENST00000476371.1:c.322C>T MANE Select | ENSP00000420714.1:p.Arg108Cys |
| NM_022100.2:c.322C>T | NP_071383.1:p.Arg108Cys |
| NR_037606.1:n.461C>T | |
| NR_037606.2:n.431C>T | |
| ENST00000367677.3:c.*231C>T | ENSP00000431220.1:n.*231C>T |
| ENST00000498253.1:n.91C>T |