Linked Data
dbSNP Id:
rs376709839
ExAC:
5:10286570 C / A
gnomAD v3:
5-10286458-C-A
gnomAD v4:
5-10286458-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286458C>A , CM000667.2:g.10286458C>A | GRCh38 |
| NC_000005.9:g.10286570C>A , CM000667.1:g.10286570C>A | GRCh37 |
| NC_000005.8:g.10339570C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.362G>T MANE Select | ENSP00000296658.3:p.Cys121Phe | |
| ENST00000296658.3:c.362G>T | ENSP00000296658.3:p.Cys121Phe | |
| ENST00000506821.1:n.616G>T | ||
| ENST00000510532.5:n.430G>T | ||
| ENST00000511963.5:n.470G>T | ||
| NM_138809.3:c.362G>T | NP_620164.1:p.Cys121Phe | |
| NM_138809.4:c.362G>T MANE Select | NP_620164.1:p.Cys121Phe |