Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000023.11:g.74525834C>T , CM000685.2:g.74525834C>T | GRCh38 |
| NC_000023.10:g.73745669C>T , CM000685.1:g.73745669C>T | GRCh37 |
| NC_000023.9:g.73662394C>T | NCBI36 |
| NG_011641.1:g.109585C>T | |
| NG_011641.2:g.109585C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000587091.6:c.1111C>T MANE Select | ENSP00000465734.1:p.Arg371Cys | |
| ENST00000636771.1:c.1020C>T | ||
| ENST00000587091.5:c.1111C>T | ENSP00000465734.1:p.Arg371Cys | |
| ENST00000590447.1:c.551C>T | ||
| NM_006517.4:c.1111C>T | NP_006508.2:p.Arg371Cys | |
| XM_005262294.1:c.1111C>T | XP_005262351.1:p.Arg371Cys | |
| XM_011531015.1:c.*115C>T | XP_011529317.1:n.*115C>T | |
| NM_006517.5:c.1111C>T MANE Select | NP_006508.2:p.Arg371Cys |