Linked Data
dbSNP Id:
rs17350764
ExAC:
11:5068431 G / A
gnomAD v2:
11-5068431-G-A
gnomAD v3:
11-5047201-G-A
gnomAD v4:
11-5047201-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.5047201G>A , CM000673.2:g.5047201G>A | GRCh38 |
| NC_000011.9:g.5068431G>A , CM000673.1:g.5068431G>A | GRCh37 |
| NC_000011.8:g.5025007G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000380370.1:c.676G>A MANE Select | ENSP00000369728.1:p.Val226Ile | |
| NM_001001916.2:c.676G>A MANE Select | NP_001001916.2:p.Val226Ile |