Linked Data
gnomAD v4:
1-17394224-C-CT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.17394225dup , CM000663.2:g.17394225dup | GRCh38 |
| NC_000001.10:g.17720721dup , CM000663.1:g.17720721dup | GRCh37 |
| NC_000001.9:g.17593308dup | NCBI36 |
| NG_032943.1:g.26980dup | |
| NG_032943.2:g.26980dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000619609.1:c.1183-75dup MANE Select | ENSP00000483125.1:n.1183-75dup | |
| NM_207421.4:c.1183-75dup MANE Select | NP_997304.3:n.1183-75dup |