Linked Data
ClinVar Variation Id:
1356347
ClinVar RCV Id:
RCV001880403
dbSNP Id:
rs1892410177
gnomAD v3:
14-23420058-G-GA
gnomAD v4:
14-23420058-G-GA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.23420060dup , CM000676.2:g.23420060dup | GRCh38 |
| NC_000014.8:g.23889269dup , CM000676.1:g.23889269dup | GRCh37 |
| NC_000014.7:g.22959109dup | NCBI36 |
| NG_007884.1:g.20603dup , LRG_384:g.20603dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000355349.4:c.3512dup MANE Select | ENSP00000347507.3:p.Gln1172ProfsTer? | |
| ENST00000355349.3:c.3512dup | ENSP00000347507.3:p.Gln1172ProfsTer? | |
| NM_000257.3:c.3512dup | NP_000248.2:p.Gln1172ProfsTer? | |
| XM_017021340.1:c.3512dup | XP_016876829.1:p.Gln1172ProfsTer? | |
| NM_000257.4:c.3512dup MANE Select | NP_000248.2:p.Gln1172ProfsTer? |