Linked Data
dbSNP Id:
rs16844716
gnomAD v2:
1-199356516-A-C
gnomAD v3:
1-199387388-A-C
gnomAD v4:
1-199387388-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.199387388A>C , CM000663.2:g.199387388A>C | GRCh38 |
| NC_000001.10:g.199356516A>C , CM000663.1:g.199356516A>C | GRCh37 |
| NC_000001.9:g.197623139A>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000430498.1:n.248A>C (EEF1A1P44) | ||
| XR_241167.1:n.310-3933A>C (LINC02789) | ||
| NR_147896.1:n.310-3933A>C (LINC02789) |