Linked Data
dbSNP Id:
rs760615795
ExAC:
10:135186809 C / A
gnomAD v2:
10-135186809-C-A
gnomAD v4:
10-133373305-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.133373305C>A , CM000672.2:g.133373305C>A | GRCh38 |
| NC_000010.10:g.135186809C>A , CM000672.1:g.135186809C>A | GRCh37 |
| NC_000010.9:g.135036799C>A | NCBI36 |
| NG_042077.1:g.5100G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000368547.4:c.29G>T MANE Select | ENSP00000357535.3:p.Cys10Phe | |
| ENST00000368547.3:c.29G>T | ENSP00000357535.3:p.Cys10Phe | |
| NM_004092.3:c.29G>T | NP_004083.3:p.Cys10Phe | |
| XR_002956965.1:n.92G>T | ||
| NM_004092.4:c.29G>T MANE Select | NP_004083.3:p.Cys10Phe |