Linked Data
dbSNP Id:
rs1696247417
gnomAD v3:
2-233250178-CCAGTGAACCATCTTCAACTA-C
gnomAD v4:
2-233250178-CCAGTGAACCATCTTCAACTA-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.233250184_233250203del , CM000664.2:g.233250184_233250203del | GRCh38 |
| NC_000002.11:g.234158830_234158849del , CM000664.1:g.234158830_234158849del | GRCh37 |
| NC_000002.10:g.233823569_233823588del | NCBI36 |
| NG_023038.1:g.3614_3633del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000431917.5:c.-137-5918_-137-5899del | ENSP00000397512.1:n.-137-5918_-137-5899de... |