Linked Data
ClinVar Variation Id:
1577847
ClinVar RCV Id:
RCV002088196
dbSNP Id:
rs761207366
ExAC:
4:178360719 T / TA
gnomAD v2:
4-178360719-T-TA
gnomAD v3:
4-177439565-T-TA
gnomAD v4:
4-177439565-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.177439572dup , CM000666.2:g.177439572dup | GRCh38 |
| NC_000004.11:g.178360726dup , CM000666.1:g.178360726dup | GRCh37 |
| NC_000004.10:g.178597720dup | NCBI36 |
| NG_011845.2:g.7938dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000264595.7:c.394+10dup MANE Select | ENSP00000264595.2:n.394+10dup | |
| ENST00000264595.6:c.394+10dup | ENSP00000264595.2:n.394+10dup | |
| ENST00000502310.5:c.49+10dup | ENSP00000423798.1:n.49+10dup | |
| ENST00000506853.5:n.428+10dup | ||
| ENST00000510635.1:c.90+10dup | ||
| ENST00000510955.5:n.315+707dup | ||
| NM_000027.3:c.394+10dup | NP_000018.2:n.394+10dup | |
| NM_001171988.1:c.394+10dup | NP_001165459.1:n.394+10dup | |
| NR_033655.1:n.522+10dup | ||
| XM_006714123.2:c.394+10dup | XP_006714186.1:n.394+10dup | |
| XR_001741155.2:n.488+10dup | ||
| NM_000027.4:c.394+10dup MANE Select | NP_000018.2:n.394+10dup | |
| NM_001171988.2:c.394+10dup | NP_001165459.1:n.394+10dup | |
| NR_033655.2:n.456+10dup |