Linked Data
dbSNP Id:
rs1295324180
gnomAD v2:
9-136132651-TG-T
gnomAD v3:
9-133257264-TG-T
gnomAD v4:
9-133257264-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.133257265del , CM000671.2:g.133257265del | GRCh38 |
| NC_000009.11:g.136132652del , CM000671.1:g.136132652del | GRCh37 |
| NC_000009.10:g.135122473del | NCBI36 |
| NG_006669.1:g.20403del | |
| NG_006669.2:g.22951del |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000453660.4:n.403+144del | ||
| ENST00000647353.1:n.54-6113del | ||
| ENST00000651471.1:n.329+777del | ||
| ENST00000679909.1:c.28+17897del | ENSP00000506089.1:n.28+17897del | |
| ENST00000453660.3:n.385+144del | ||
| ENST00000538324.2:c.371+144del | ENSP00000483018.1:n.371+144del | |
| ENST00000611156.4:c.371+144del | ENSP00000483265.1:n.371+144del | |
| NM_020469.2:c.374+144del | NP_065202.2:n.374+144del | |
| NM_020469.3:c.374+144del | NP_065202.2:n.374+144del |