Linked Data
dbSNP Id:
rs749028113
ExAC:
19:6714152 TC / T
gnomAD v2:
19-6714152-TC-T
gnomAD v4:
19-6714141-TC-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714147del , CM000681.2:g.6714147del | GRCh38 |
| NC_000019.9:g.6714158del , CM000681.1:g.6714158del | GRCh37 |
| NC_000019.8:g.6665158del | NCBI36 |
| NG_009557.1:g.11510del , LRG_27:g.11510del |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.559+24del | ENSP00000512083.1:n.559+24del | |
| ENST00000245907.11:c.682+24del MANE Select | ENSP00000245907.4:n.682+24del | |
| ENST00000245907.10:c.682+24del | ENSP00000245907.4:n.682+24del | |
| ENST00000595577.1:n.186+24del | ||
| NM_000064.3:c.682+24del | NP_000055.2:n.682+24del | |
| NM_000064.4:c.682+24del MANE Select | NP_000055.2:n.682+24del |