Linked Data
dbSNP Id:
rs1256843054
gnomAD v3:
17-30221562-C-CGGGTCACAGCCCACCCT
gnomAD v4:
17-30221562-C-CGGGTCACAGCCCACCCT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.30221574_30221590dup , CM000679.2:g.30221574_30221590dup | GRCh38 |
| NC_000017.10:g.28548592_28548608dup , CM000679.1:g.28548592_28548608dup | GRCh37 |
| NC_000017.9:g.25572718_25572734dup | NCBI36 |
| NG_011747.2:g.19358_19374dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650711.1:c.343+37_343+53dup MANE Select | ENSP00000498537.1:n.343+37_343+53dup | |
| ENST00000261707.7:c.343+37_343+53dup | ENSP00000261707.3:n.343+37_343+53dup | |
| ENST00000394821.2:c.343+37_343+53dup | ENSP00000378298.2:n.343+37_343+53dup | |
| ENST00000401766.6:c.343+37_343+53dup | ENSP00000385822.2:n.343+37_343+53dup | |
| NM_001045.5:c.343+37_343+53dup | NP_001036.1:n.343+37_343+53dup | |
| NM_001045.6:c.343+37_343+53dup MANE Select | NP_001036.1:n.343+37_343+53dup |