SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-09-25T08:00:00-0500
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
New user registrations, changes to existing user profiles, and changes to user credentials will be suspended for several weeks.
This allows us to avoid multi-day, broad service outages as we continue to migrate off our current cloud hosting provider.
Linked Data
dbSNP Id:
rs1023878846
gnomAD v2:
15-48737354-C-CAT
gnomAD v3:
15-48445157-C-CAT
gnomAD v4:
15-48445157-C-CAT
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48445167_48445168dup , CM000677.2:g.48445167_48445168dup | GRCh38 |
| NC_000015.9:g.48737364_48737365dup , CM000677.1:g.48737364_48737365dup | GRCh37 |
| NC_000015.8:g.46524656_46524657dup | NCBI36 |
| NG_008805.2:g.205630_205631dup , LRG_778:g.205630_205631dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.5917+217_5917+218dup | ENSP00000453958.2:n.5917+217_5917+218dup | |
| ENST00000674301.2:c.5917+217_5917+218dup | ENSP00000501333.2:n.5917+217_5917+218dup | |
| ENST00000684448.1:n.4591+217_4591+218dup | ||
| ENST00000316623.10:c.5917+217_5917+218dup MANE Select | ENSP00000325527.5:n.5917+217_5917+218dup | |
| ENST00000674301.1:c.916+217_916+218dup | ENSP00000501333.1:n.916+217_916+218dup | |
| ENST00000316623.9:c.5917+217_5917+218dup | ENSP00000325527.5:n.5917+217_5917+218dup | |
| ENST00000537463.6:c.*1680+217_*1680+218dup | ENSP00000440294.2:n.*1680+217_*1680+218dup | |
| ENST00000559133.5:c.1224+217_1224+218dup | ||
| ENST00000560820.1:n.37+217_37+218dup | ||
| NM_000138.4:c.5917+217_5917+218dup , LRG_778t1:c.5917+217_5917+218dup | NP_000129.3:n.5917+217_5917+218dup | |
| NM_000138.5:c.5917+217_5917+218dup MANE Select | NP_000129.3:n.5917+217_5917+218dup |