Linked Data
dbSNP Id:
rs781717654
ExAC:
6:32188583 C / A
gnomAD v2:
6-32188583-C-A
gnomAD v4:
6-32220806-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32220806C>A , CM000668.2:g.32220806C>A | GRCh38 |
| NC_000006.11:g.32188583C>A , CM000668.1:g.32188583C>A | GRCh37 |
| NC_000006.10:g.32296561C>A | NCBI36 |
| NG_028190.1:g.8262G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000375023.3:c.872G>T MANE Select | ENSP00000364163.3:p.Cys291Phe | |
| ENST00000473562.1:n.1001G>T | ||
| NM_004557.3:c.872G>T | NP_004548.3:p.Cys291Phe | |
| NR_134949.1:n.1011G>T | ||
| NR_134950.1:n.1011G>T | ||
| NM_004557.4:c.872G>T MANE Select | NP_004548.3:p.Cys291Phe | |
| NR_134949.2:n.1011G>T | ||
| NR_134950.2:n.1011G>T |