Linked Data
dbSNP Id:
rs144167278
ExAC:
5:10286547 C / T
gnomAD v2:
5-10286547-C-T
gnomAD v3:
5-10286435-C-T
gnomAD v4:
5-10286435-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000005.10:g.10286435C>T , CM000667.2:g.10286435C>T | GRCh38 |
| NC_000005.9:g.10286547C>T , CM000667.1:g.10286547C>T | GRCh37 |
| NC_000005.8:g.10339547C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000296658.4:c.385G>A MANE Select | ENSP00000296658.3:p.Val129Met | |
| ENST00000296658.3:c.385G>A | ENSP00000296658.3:p.Val129Met | |
| ENST00000506821.1:n.639G>A | ||
| ENST00000510532.5:n.453G>A | ||
| ENST00000511963.5:n.493G>A | ||
| NM_138809.3:c.385G>A | NP_620164.1:p.Val129Met | |
| NM_138809.4:c.385G>A MANE Select | NP_620164.1:p.Val129Met |