Linked Data
ClinVar Variation Id:
43978
ClinVar RCV Id:
RCV000036950
RCV000157429
RCV000271797
RCV000475809
RCV000618301
RCV001170925
RCV001529848
dbSNP Id:
rs397516597
ExAC:
10:112570222 T / TGAG
gnomAD v2:
10-112570222-T-TGAG
gnomAD v3:
10-110810464-T-TGAG
gnomAD v4:
10-110810464-T-TGAG
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.110810466_110810468dup , CM000672.2:g.110810466_110810468dup | GRCh38 |
| NC_000010.10:g.112570224_112570226dup , CM000672.1:g.112570224_112570226dup | GRCh37 |
| NC_000010.9:g.112560214_112560216dup | NCBI36 |
| NG_021177.1:g.171070_171072dup , LRG_382:g.171070_171072dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000369519.4:c.1880+4_1880+6dup MANE Select | ENSP00000358532.3:n.1880+4_1880+6dup | |
| ENST00000369519.3:c.1880+4_1880+6dup | ENSP00000358532.3:n.1880+4_1880+6dup | |
| NM_001134363.2:c.1880+4_1880+6dup | NP_001127835.2:n.1880+4_1880+6dup | |
| XM_011539697.1:c.1496+4_1496+6dup | XP_011537999.1:n.1496+4_1496+6dup | |
| XM_017016103.2:c.1715+4_1715+6dup | XP_016871592.1:n.1715+4_1715+6dup | |
| XM_017016104.2:c.1496+4_1496+6dup | XP_016871593.1:n.1496+4_1496+6dup | |
| NM_001134363.3:c.1880+4_1880+6dup MANE Select | NP_001127835.2:n.1880+4_1880+6dup |