Linked Data
dbSNP Id:
rs1429310153
gnomAD v2:
2-79632209-ATCACT-A
gnomAD v3:
2-79405083-ATCACT-A
gnomAD v4:
2-79405083-ATCACT-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.79405085_79405089del , CM000664.2:g.79405085_79405089del | GRCh38 |
| NC_000002.11:g.79632211_79632215del , CM000664.1:g.79632211_79632215del | GRCh37 |
| NC_000002.10:g.79485719_79485723del | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000466387.5:c.-135+31072_-135+31076del | ENSP00000418191.1:n.-135+31072_-135+31076del | |
| NM_001399737.1:c.-135+31072_-135+31076del | NP_001386666.1:n.-135+31072_-135+31076del |