Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.119179475C>T , CM000674.2:g.119179475C>T | GRCh38 |
| NC_000012.11:g.119617280C>T , CM000674.1:g.119617280C>T | GRCh37 |
| NC_000012.10:g.118101663C>T | NCBI36 |
| NG_007953.2:g.5686C>T , LRG_249:g.5686C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_014365.3:c.163C>T MANE Select | NP_055180.1:p.Arg55Cys |
| ENST00000281938.7:c.163C>T MANE Select | ENSP00000281938.3:p.Arg55Cys |
| NM_014365.2:c.163C>T , LRG_249t1:c.163C>T | NP_055180.1:p.Arg55Cys |
| ENST00000281938.6:c.163C>T | ENSP00000281938.2:p.Arg55Cys |
| ENST00000674542.1:c.163C>T | ENSP00000502352.1:p.Arg55Cys |
| ENST00000676244.1:n.73+5477C>T |