Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.115725543G>A , CM000663.2:g.115725543G>A | GRCh38 |
| NC_000001.10:g.116268164G>A , CM000663.1:g.116268164G>A | GRCh37 |
| NC_000001.9:g.116069687G>A | NCBI36 |
| NG_008802.1:g.48263C>T , LRG_404:g.48263C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_001232.4:c.748C>T MANE Select | NP_001223.2:p.Arg250Cys |
| ENST00000261448.6:c.748C>T MANE Select | ENSP00000261448.5:p.Arg250Cys |
| NM_001232.3:c.748C>T , LRG_404t1:c.748C>T | NP_001223.2:p.Arg250Cys |
| ENST00000261448.5:c.748C>T | ENSP00000261448.5:p.Arg250Cys |
| ENST00000488931.2:c.*120C>T | ENSP00000518226.1:n.*120C>T |