Linked Data
dbSNP Id:
rs746770208
ExAC:
19:18896744 GC / G
gnomAD v2:
19-18896744-GC-G
gnomAD v4:
19-18785934-GC-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.18785939del , CM000681.2:g.18785939del | GRCh38 |
| NC_000019.9:g.18896749del , CM000681.1:g.18896749del | GRCh37 |
| NC_000019.8:g.18757749del | NCBI36 |
| NG_007070.1:g.10370del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000222271.7:c.1489+30del MANE Select | ENSP00000222271.2:n.1489+30del | |
| ENST00000222271.6:c.1489+30del | ENSP00000222271.2:n.1489+30del | |
| ENST00000425807.1:c.1330+30del | ENSP00000403792.1:n.1330+30del | |
| ENST00000542601.6:c.1390+30del | ENSP00000439156.2:n.1390+30del | |
| NM_000095.2:c.1489+30del | NP_000086.2:n.1489+30del | |
| NM_000095.3:c.1489+30del MANE Select | NP_000086.2:n.1489+30del |