Linked Data
dbSNP Id:
rs756034402
ExAC:
5:10286552 C / T
gnomAD v2:
5-10286552-C-T
gnomAD v4:
5-10286440-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286440C>T , CM000667.2:g.10286440C>T | GRCh38 |
| NC_000005.9:g.10286552C>T , CM000667.1:g.10286552C>T | GRCh37 |
| NC_000005.8:g.10339552C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.380G>A MANE Select | ENSP00000296658.3:p.Gly127Asp | |
| ENST00000296658.3:c.380G>A | ENSP00000296658.3:p.Gly127Asp | |
| ENST00000506821.1:n.634G>A | ||
| ENST00000510532.5:n.448G>A | ||
| ENST00000511963.5:n.488G>A | ||
| NM_138809.3:c.380G>A | NP_620164.1:p.Gly127Asp | |
| NM_138809.4:c.380G>A MANE Select | NP_620164.1:p.Gly127Asp |