Linked Data
dbSNP Id:
rs8176723
gnomAD v2:
9-136132635-GA-G
gnomAD v3:
9-133257248-GA-G
gnomAD v4:
9-133257248-GA-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257249del , CM000671.2:g.133257249del | GRCh38 |
| NC_000009.11:g.136132636del , CM000671.1:g.136132636del | GRCh37 |
| NC_000009.10:g.135122457del | NCBI36 |
| NG_006669.1:g.20419del | |
| NG_006669.2:g.22967del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+160del | ||
| ENST00000647353.1:n.54-6097del | ||
| ENST00000651471.1:n.329+793del | ||
| ENST00000679909.1:c.28+17913del | ENSP00000506089.1:n.28+17913del | |
| ENST00000453660.3:n.385+160del | ||
| ENST00000538324.2:c.371+160del | ENSP00000483018.1:n.371+160del | |
| ENST00000611156.4:c.371+160del | ENSP00000483265.1:n.371+160del | |
| NM_020469.2:c.374+160del | NP_065202.2:n.374+160del | |
| NM_020469.3:c.374+160del | NP_065202.2:n.374+160del |