Linked Data
dbSNP Id:
rs758947599
ExAC:
10:96748734 TG / T
gnomAD v2:
10-96748734-TG-T
gnomAD v4:
10-94988977-TG-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.94988979del , CM000672.2:g.94988979del | GRCh38 |
| NC_000010.10:g.96748736del , CM000672.1:g.96748736del | GRCh37 |
| NC_000010.9:g.96738726del | NCBI36 |
| NG_008385.1:g.55322del | |
| NG_008385.2:g.55822del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000260682.8:c.1424del MANE Select | ENSP00000260682.6:p.Gly475AspfsTer? | |
| ENST00000643112.1:c.*433del | ENSP00000496202.1:n.*433del | |
| ENST00000260682.6:c.1424del | ENSP00000260682.6:p.Gly475AspfsTer? | |
| NM_000771.3:c.1424del | NP_000762.2:p.Gly475AspfsTer? | |
| NM_000771.4:c.1424del MANE Select | NP_000762.2:p.Gly475AspfsTer? |