Linked Data
dbSNP Id:
rs1413565920
gnomAD v2:
6-44777836-A-G
gnomAD v3:
6-44810099-A-G
gnomAD v4:
6-44810099-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.44810099A>G , CM000668.2:g.44810099A>G | GRCh38 |
| NC_000006.11:g.44777836A>G , CM000668.1:g.44777836A>G | GRCh37 |
| NC_000006.10:g.44885814A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475057.5:c.*53-598T>C | ENSP00000436411.1:n.*53-598T>C | |
| XR_926319.1:n.1091-598T>C | ||
| XR_926854.1:n.341-19489A>G | ||
| XR_926855.1:n.172-19489A>G | ||
| NR_146632.1:n.1104-598T>C | ||
| NR_146633.1:n.1166-598T>C | ||
| NR_146634.1:n.1118-598T>C | ||
| NR_146635.1:n.1163-598T>C | ||
| XR_002956310.1:n.1432-598T>C | ||
| XR_926319.3:n.1091-598T>C | ||
| XR_926854.2:n.365-19489A>G | ||
| XR_926855.2:n.246-19489A>G | ||
| NR_146632.2:n.1174-598T>C | ||
| NR_146634.2:n.1160-598T>C | ||
| NR_146635.2:n.1307-598T>C |