Linked Data
dbSNP Id:
rs1421076489
gnomAD v2:
1-94884001-GT-G
gnomAD v3:
1-94418445-GT-G
gnomAD v4:
1-94418445-GT-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.94418446del , CM000663.2:g.94418446del | GRCh38 |
| NC_000001.10:g.94884002del , CM000663.1:g.94884002del | GRCh37 |
| NC_000001.9:g.94656590del | NCBI36 |
| NG_008865.1:g.5070del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000370214.9:c.-33del MANE Select | ENSP00000359233.4:n.-33del | |
| NM_001122674.1:c.-33del | NP_001116146.1:n.-33del | |
| NM_002858.3:c.-33del | NP_002849.1:n.-33del | |
| XM_006710802.2:c.-33del | XP_006710865.2:n.-33del | |
| NM_002858.4:c.-33del MANE Select | NP_002849.1:n.-33del | |
| NM_001122674.2:c.-33del | NP_001116146.1:n.-33del |