Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.27082319C>T , CM000664.2:g.27082319C>T | GRCh38 |
| NC_000002.11:g.27305187C>T , CM000664.1:g.27305187C>T | GRCh37 |
| NC_000002.10:g.27158691C>T | NCBI36 |
| NG_012199.1:g.577C>T | |
| NG_046849.1:g.8753C>T | |
| NG_012199.2:g.577C>T |
Transcript Alleles
| HGVS | Amino-acid Change |
|---|---|
| NM_007046.4:c.748C>T MANE Select | NP_008977.1:p.Arg250Cys |
| ENST00000380320.9:c.748C>T MANE Select | ENSP00000369677.4:p.Arg250Cys |
| NM_007046.3:c.748C>T | NP_008977.1:p.Arg250Cys |
| ENST00000380320.8:c.748C>T | ENSP00000369677.4:p.Arg250Cys |
| XM_006711928.2:c.748C>T | XP_006711991.1:p.Arg250Cys |