Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.33692839C>T , CM000668.2:g.33692839C>T | GRCh38 |
| NC_000006.11:g.33660616C>T , CM000668.1:g.33660616C>T | GRCh37 |
| NC_000006.10:g.33768594C>T | NCBI36 |
| NG_027729.1:g.76461C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_002224.4:c.7570C>T MANE Select | NP_002215.2:p.Arg2524Cys |
| ENST00000605930.3:c.7570C>T MANE Select | ENSP00000475177.1:p.Arg2524Cys |
| NM_002224.3:c.7570C>T | NP_002215.2:p.Arg2524Cys |
| ENST00000374316.9:c.7570C>T | ENSP00000363435.4:p.Arg2524Cys |
| ENST00000605930.2:c.7570C>T | ENSP00000475177.1:p.Arg2524Cys |
| XM_011514576.1:c.7639C>T | XP_011512878.1:p.Arg2547Cys |
| XM_011514577.1:c.7387C>T | XP_011512879.1:p.Arg2463Cys |
| XM_011514577.3:c.7387C>T | XP_011512879.1:p.Arg2463Cys |