Linked Data
ClinVar Variation Id:
2876896
ClinVar RCV Id:
RCV003759499
dbSNP Id:
rs772929257
ExAC:
9:137642625 T / TA
gnomAD v2:
9-137642625-T-TA
gnomAD v3:
9-134750779-T-TA
gnomAD v4:
9-134750779-T-TA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.134750780dup , CM000671.2:g.134750780dup | GRCh38 |
| NC_000009.11:g.137642626dup , CM000671.1:g.137642626dup | GRCh37 |
| NC_000009.10:g.136782447dup | NCBI36 |
| NG_008030.1:g.113975dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371820.4:c.1570-10dup | ENSP00000360885.4:n.1570-10dup | |
| ENST00000371817.8:c.1570-10dup MANE Select | ENSP00000360882.3:n.1570-10dup | |
| ENST00000371817.7:c.1570-10dup | ENSP00000360882.3:n.1570-10dup | |
| ENST00000618395.4:c.1570-10dup | ENSP00000481360.1:n.1570-10dup | |
| NM_000093.4:c.1570-10dup | NP_000084.3:n.1570-10dup | |
| NM_001278074.1:c.1570-10dup | NP_001265003.1:n.1570-10dup | |
| XR_929712.1:n.1972-10dup | ||
| XR_929713.1:n.1972-10dup | ||
| XM_017014266.2:c.1570-10dup | XP_016869755.1:n.1570-10dup | |
| XR_001746183.1:n.1968-10dup | ||
| NM_000093.5:c.1570-10dup MANE Select | NP_000084.3:n.1570-10dup |