Linked Data
dbSNP Id:
rs767723431
ExAC:
4:187120202 AAG / A
gnomAD v2:
4-187120202-AAG-A
gnomAD v3:
4-186199048-AAG-A
gnomAD v4:
4-186199048-AAG-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186199051_186199052del , CM000666.2:g.186199051_186199052del | GRCh38 |
| NC_000004.11:g.187120205_187120206del , CM000666.1:g.187120205_187120206del | GRCh37 |
| NC_000004.10:g.187357199_187357200del | NCBI36 |
| NG_007965.1:g.12532_12533del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378802.5:c.769_770del MANE Select | ENSP00000368079.4:p.Ser257ProfsTer14 | |
| ENST00000378802.4:c.769_770del | ENSP00000368079.4:p.Ser257ProfsTer14 | |
| ENST00000507209.5:n.1610_1611del | ||
| NM_207352.3:c.769_770del | NP_997235.3:p.Ser257ProfsTer14 | |
| XM_005262935.2:c.769_770del | XP_005262992.1:p.Ser257ProfsTer14 | |
| XM_006714184.2:c.373_374del | XP_006714247.1:p.Ser125ProfsTer14 | |
| XM_005262935.4:c.769_770del | XP_005262992.1:p.Ser257ProfsTer14 | |
| XM_017008037.1:c.373_374del | XP_016863526.1:p.Ser125ProfsTer14 | |
| NM_207352.4:c.769_770del MANE Select | NP_997235.3:p.Ser257ProfsTer14 |