Linked Data
dbSNP Id:
rs10775247
ExAC:
15:90126121 C / T
gnomAD v2:
15-90126121-C-T
gnomAD v3:
15-89582890-C-T
gnomAD v4:
15-89582890-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.89582890C>T , CM000677.2:g.89582890C>T | GRCh38 |
| NC_000015.9:g.90126121C>T , CM000677.1:g.90126121C>T | GRCh37 |
| NC_000015.8:g.87927125C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000268138.12:c.859C>T MANE Select | ENSP00000268138.7:p.Arg287Cys | |
| ENST00000268138.11:c.859C>T | ENSP00000268138.7:p.Arg287Cys | |
| ENST00000560985.5:c.859C>T | ENSP00000453306.1:p.Arg287Cys | |
| NM_001308025.1:c.859C>T | NP_001294954.1:p.Arg287Cys | |
| NM_152259.3:c.859C>T | NP_689472.3:p.Arg287Cys | |
| XM_011522162.1:c.859C>T | XP_011520464.1:p.Arg287Cys | |
| NM_152259.4:c.859C>T MANE Select | NP_689472.3:p.Arg287Cys |