Linked Data
gnomAD v4:
19-6714171-T-TC
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.6714173dup , CM000681.2:g.6714173dup | GRCh38 |
| NC_000019.9:g.6714184dup , CM000681.1:g.6714184dup | GRCh37 |
| NC_000019.8:g.6665184dup | NCBI36 |
| NG_009557.1:g.11480dup , LRG_27:g.11480dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000695652.1:c.553dup | ENSP00000512083.1:p.Glu185GlyfsTer22 | |
| ENST00000245907.11:c.676dup MANE Select | ENSP00000245907.4:p.Glu226GlyfsTer22 | |
| ENST00000245907.10:c.676dup | ENSP00000245907.4:p.Glu226GlyfsTer22 | |
| ENST00000595577.1:n.180dup | ||
| NM_000064.3:c.676dup | NP_000055.2:p.Glu226GlyfsTer22 | |
| NM_000064.4:c.676dup MANE Select | NP_000055.2:p.Glu226GlyfsTer22 |