Linked Data
dbSNP Id:
rs1017320714
gnomAD v2:
20-43280527-G-T
gnomAD v3:
20-44651886-G-T
gnomAD v4:
20-44651886-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44651886G>T , CM000682.2:g.44651886G>T | GRCh38 |
| NC_000020.10:g.43280527G>T , CM000682.1:g.43280527G>T | GRCh37 |
| NC_000020.9:g.42713941G>T | NCBI36 |
| NG_007385.1:g.4850C>A , LRG_16:g.4850C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000536076.2:c.-121+16C>A | ENSP00000512234.1:n.-121+16C>A | |
| ENST00000696039.1:n.321+16C>A | ||
| ENST00000696062.1:c.96+214C>A | ENSP00000512365.1:n.96+214C>A | |
| ENST00000696064.1:c.-118+16C>A | ENSP00000512367.1:n.-118+16C>A | |
| ENST00000696065.1:c.-121+16C>A | ENSP00000512368.1:n.-121+16C>A | |
| ENST00000535573.1:n.332+16C>A | ||
| ENST00000536076.1:n.213+16C>A | ||
| XM_011528479.1:c.-257+16C>A | XP_011526781.1:n.-257+16C>A |