Linked Data
gnomAD v4:
10-30314002-G-GT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.30314003dup , CM000672.2:g.30314003dup | GRCh38 |
| NC_000010.10:g.30602932dup , CM000672.1:g.30602932dup | GRCh37 |
| NC_000010.9:g.30642938dup | NCBI36 |
| NG_028096.1:g.40336dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263063.9:c.1387-32dup MANE Select | ENSP00000263063.3:n.1387-32dup | |
| ENST00000263063.8:c.1387-32dup | ENSP00000263063.3:n.1387-32dup | |
| ENST00000488290.5:n.3142-32dup | ||
| NM_018109.3:c.1387-32dup | NP_060579.3:n.1387-32dup | |
| NM_018109.4:c.1387-32dup MANE Select | NP_060579.3:n.1387-32dup |