Linked Data
dbSNP Id:
rs34399279
ExAC:
14:23893389 C / CA
gnomAD v2:
14-23893389-C-CA
gnomAD v4:
14-23424180-C-CA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23424181dup , CM000676.2:g.23424181dup | GRCh38 |
| NC_000014.8:g.23893390dup , CM000676.1:g.23893390dup | GRCh37 |
| NC_000014.7:g.22963230dup | NCBI36 |
| NG_007884.1:g.16481dup , LRG_384:g.16481dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.2680-32dup MANE Select | ENSP00000347507.3:n.2680-32dup | |
| ENST00000355349.3:c.2680-32dup | ENSP00000347507.3:n.2680-32dup | |
| NM_000257.3:c.2680-32dup | NP_000248.2:n.2680-32dup | |
| XR_245686.3:n.2786-32dup | ||
| XM_017021340.1:c.2680-32dup | XP_016876829.1:n.2680-32dup | |
| NM_000257.4:c.2680-32dup MANE Select | NP_000248.2:n.2680-32dup |