Linked Data
dbSNP Id:
rs777494808
ExAC:
6:39016641 C / T
gnomAD v2:
6-39016641-C-T
gnomAD v4:
6-39048865-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.39048865C>T , CM000668.2:g.39048865C>T | GRCh38 |
| NC_000006.11:g.39016641C>T , CM000668.1:g.39016641C>T | GRCh37 |
| NC_000006.10:g.39124619C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000373256.5:c.25C>T MANE Select | ENSP00000362353.4:p.Arg9Cys | |
| ENST00000373256.4:c.25C>T | ENSP00000362353.4:p.Arg9Cys | |
| NM_002062.3:c.25C>T | NP_002053.3:p.Arg9Cys | |
| XR_926153.1:n.85C>T | ||
| XR_926154.1:n.85C>T | ||
| XR_926155.1:n.85C>T | ||
| NM_002062.4:c.25C>T | NP_002053.3:p.Arg9Cys | |
| NR_136562.1:n.85C>T | ||
| NR_136563.1:n.85C>T | ||
| NM_002062.5:c.25C>T MANE Select | NP_002053.3:p.Arg9Cys | |
| NR_136562.2:n.85C>T | ||
| NR_136563.2:n.85C>T |