Linked Data
dbSNP Id:
rs780214785
ExAC:
19:12760012 TC / T
gnomAD v2:
19-12760012-TC-T
gnomAD v4:
19-12649198-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.12649199del , CM000681.2:g.12649199del | GRCh38 |
| NC_000019.9:g.12760013del , CM000681.1:g.12760013del | GRCh37 |
| NC_000019.8:g.12621013del | NCBI36 |
| NG_008318.1:g.22579del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000456935.7:c.2373del MANE Select | ENSP00000395473.2:p.Thr792LeufsTer3 | |
| ENST00000221363.8:c.2370del | ENSP00000221363.4:p.Thr791LeufsTer3 | |
| ENST00000456935.6:c.2373del | ENSP00000395473.2:p.Thr792LeufsTer3 | |
| ENST00000466794.5:n.2963del | ||
| NM_000528.3:c.2373del | NP_000519.2:p.Thr792LeufsTer3 | |
| NM_001173498.1:c.2370del | NP_001166969.1:p.Thr791LeufsTer3 | |
| XM_005259913.1:c.2376del | XP_005259970.1:p.Thr793LeufsTer3 | |
| XM_011528017.1:c.1272del | XP_011526319.1:p.Thr425LeufsTer3 | |
| XM_005259913.2:c.2376del | XP_005259970.1:p.Thr793LeufsTer3 | |
| XM_024451518.1:c.1272del | XP_024307286.1:p.Thr425LeufsTer3 | |
| NM_000528.4:c.2373del MANE Select | NP_000519.2:p.Thr792LeufsTer3 | |
| NM_001173498.2:c.2370del | NP_001166969.1:p.Thr791LeufsTer3 |