Linked Data
dbSNP Id:
rs2057246239
gnomAD v3:
17-39665308-A-AGGAGGGGGC
gnomAD v4:
17-39665308-A-AGGAGGGGGC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000017.11:g.39665309_39665317dup , CM000679.2:g.39665309_39665317dup | GRCh38 |
| NC_000017.10:g.37821562_37821570dup , CM000679.1:g.37821562_37821570dup | GRCh37 |
| NC_000017.9:g.35075088_35075096dup | NCBI36 |
| NG_008892.1:g.4964_4972dup , LRG_210:g.4964_4972dup | |
| NG_042278.1:g.2329_2337dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000309889.2:c.-51_-43dup | ENSP00000312624.2:n.-51_-43dup |