Linked Data
dbSNP Id:
rs2070421331
gnomAD v3:
17-49363145-CAAGGTG-C
gnomAD v4:
17-49363145-CAAGGTG-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.49363150_49363155del , CM000679.2:g.49363150_49363155del | GRCh38 |
| NC_000017.10:g.47440512_47440517del , CM000679.1:g.47440512_47440517del | GRCh37 |
| NC_000017.9:g.44795511_44795516del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| NR_110882.1:n.136+633_136+638del | ||
| NR_110883.1:n.31-1129_31-1124del | ||
| NR_110884.1:n.58-1129_58-1124del |