Linked Data
dbSNP Id:
rs1967870910
gnomAD v3:
19-6710024-G-GGCGGGAGAGAGA
gnomAD v4:
19-6710024-G-GGCGGGAGAGAGA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6710026_6710037dup , CM000681.2:g.6710026_6710037dup | GRCh38 |
| NC_000019.9:g.6710037_6710048dup , CM000681.1:g.6710037_6710048dup | GRCh37 |
| NC_000019.8:g.6661037_6661048dup | NCBI36 |
| NG_009557.1:g.15616_15627dup , LRG_27:g.15616_15627dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.1564-194_1564-183dup | ENSP00000512083.1:n.1564-194_1564-183dup | |
| ENST00000695654.1:c.811-194_811-183dup | ENSP00000512085.1:n.811-194_811-183dup | |
| ENST00000695655.1:c.592-158_592-147dup | ENSP00000512086.1:n.592-158_592-147dup | |
| ENST00000695692.1:n.1051-194_1051-183dup | ||
| ENST00000245907.11:c.1687-194_1687-183dup MANE Select | ENSP00000245907.4:n.1687-194_1687-183dup | |
| ENST00000245907.10:c.1687-194_1687-183dup | ENSP00000245907.4:n.1687-194_1687-183dup | |
| ENST00000600763.1:n.320-194_320-183dup | ||
| NM_000064.3:c.1687-194_1687-183dup | NP_000055.2:n.1687-194_1687-183dup | |
| NM_000064.4:c.1687-194_1687-183dup MANE Select | NP_000055.2:n.1687-194_1687-183dup |