Linked Data
ClinVar Variation Id:
1442573
ClinVar RCV Id:
RCV001953072
dbSNP Id:
rs750501256
ExAC:
2:29293978 T / TG
gnomAD v2:
2-29293978-T-TG
gnomAD v3:
2-29071112-T-TG
gnomAD v4:
2-29071112-T-TG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29071116dup , CM000664.2:g.29071116dup | GRCh38 |
| NC_000002.11:g.29293982dup , CM000664.1:g.29293982dup | GRCh37 |
| NC_000002.10:g.29147486dup | NCBI36 |
| NG_021427.1:g.8149dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000331664.6:c.3149dup MANE Select | ENSP00000332809.4:p.Pro1051ThrfsTer? | |
| ENST00000331664.5:c.3149dup | ENSP00000332809.4:p.Pro1051ThrfsTer? | |
| NM_001029883.2:c.3149dup | NP_001025054.1:p.Pro1051ThrfsTer? | |
| XM_011532826.1:c.3149dup | XP_011531128.1:p.Pro1051ThrfsTer? | |
| XR_939901.1:n.185+1949dup | ||
| XR_939902.1:n.173+1961dup | ||
| NM_001029883.3:c.3149dup MANE Select | NP_001025054.1:p.Pro1051ThrfsTer? |