Linked Data
dbSNP Id:
rs1451930121
gnomAD v2:
6-44777737-G-T
gnomAD v3:
6-44810000-G-T
gnomAD v4:
6-44810000-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44810000G>T , CM000668.2:g.44810000G>T | GRCh38 |
| NC_000006.11:g.44777737G>T , CM000668.1:g.44777737G>T | GRCh37 |
| NC_000006.10:g.44885715G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475057.5:c.*53-499C>A | ENSP00000436411.1:n.*53-499C>A | |
| XR_926319.1:n.1091-499C>A | ||
| XR_926854.1:n.341-19588G>T | ||
| XR_926855.1:n.172-19588G>T | ||
| NR_146632.1:n.1104-499C>A | ||
| NR_146633.1:n.1166-499C>A | ||
| NR_146634.1:n.1118-499C>A | ||
| NR_146635.1:n.1163-499C>A | ||
| XR_002956310.1:n.1432-499C>A | ||
| XR_926319.3:n.1091-499C>A | ||
| XR_926854.2:n.365-19588G>T | ||
| XR_926855.2:n.246-19588G>T | ||
| NR_146632.2:n.1174-499C>A | ||
| NR_146634.2:n.1160-499C>A | ||
| NR_146635.2:n.1307-499C>A |