Linked Data
dbSNP Id:
rs33931933
gnomAD v2:
6-31325403-AC-A
gnomAD v3:
6-31357626-AC-A
gnomAD v4:
6-31357626-AC-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.31357627del , CM000668.2:g.31357627del | GRCh38 |
| NC_000006.11:g.31325404del , CM000668.1:g.31325404del | GRCh37 |
| NC_000006.10:g.31433383del | NCBI36 |
| NG_023187.1:g.4586del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000474381.2:n.1325del | ||
| ENST00000481849.6:n.1325del | ||
| ENST00000497377.6:n.1325del | ||
| ENST00000696559.1:c.-149del | ENSP00000512717.1:n.-149del | |
| ENST00000696560.1:c.-149del | ENSP00000512718.1:n.-149del | |
| ENST00000696561.1:c.-149del | ENSP00000512719.1:n.-149del | |
| ENST00000696562.1:c.-135-334del | ENSP00000512720.1:n.-135-334del | |
| ENST00000603274.1:n.981del | ||
| XR_926692.1:n.151del |