Linked Data
dbSNP Id:
rs988204828
gnomAD v2:
15-48737394-C-CATAT
gnomAD v3:
15-48445197-C-CATAT
gnomAD v4:
15-48445197-C-CATAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445204_48445207dup , CM000677.2:g.48445204_48445207dup | GRCh38 |
| NC_000015.9:g.48737401_48737404dup , CM000677.1:g.48737401_48737404dup | GRCh37 |
| NC_000015.8:g.46524693_46524696dup | NCBI36 |
| NG_008805.2:g.205588_205591dup , LRG_778:g.205588_205591dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+175_5917+178dup | ENSP00000453958.2:n.5917+175_5917+178dup | |
| ENST00000674301.2:c.5917+175_5917+178dup | ENSP00000501333.2:n.5917+175_5917+178dup | |
| ENST00000684448.1:n.4591+175_4591+178dup | ||
| ENST00000316623.10:c.5917+175_5917+178dup MANE Select | ENSP00000325527.5:n.5917+175_5917+178dup | |
| ENST00000674301.1:c.916+175_916+178dup | ENSP00000501333.1:n.916+175_916+178dup | |
| ENST00000316623.9:c.5917+175_5917+178dup | ENSP00000325527.5:n.5917+175_5917+178dup | |
| ENST00000537463.6:c.*1680+175_*1680+178dup | ENSP00000440294.2:n.*1680+175_*1680+178dup | |
| ENST00000559133.5:c.1224+175_1224+178dup | ||
| ENST00000560820.1:n.37+175_37+178dup | ||
| NM_000138.4:c.5917+175_5917+178dup , LRG_778t1:c.5917+175_5917+178dup | NP_000129.3:n.5917+175_5917+178dup | |
| NM_000138.5:c.5917+175_5917+178dup MANE Select | NP_000129.3:n.5917+175_5917+178dup |