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:
rs530888628
gnomAD v2:
12-103248588-C-CAAACA
gnomAD v3:
12-102854810-C-CAAACA
gnomAD v4:
12-102854810-C-CAAACA
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.102854829_102854833dup , CM000674.2:g.102854829_102854833dup | GRCh38 |
| NC_000012.11:g.103248607_103248611dup , CM000674.1:g.103248607_103248611dup | GRCh37 |
| NC_000012.10:g.101772737_101772741dup | NCBI36 |
| NG_008690.1:g.67788_67792dup | |
| NG_008690.2:g.108596_108600dup |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000553106.6:c.706+321_706+325dup MANE Select | ENSP00000448059.1:n.706+321_706+325dup | |
| ENST00000307000.7:c.691+321_691+325dup | ENSP00000303500.2:n.691+321_691+325dup | |
| ENST00000549111.5:n.1123_1127dup | ||
| ENST00000553106.5:c.706+321_706+325dup | ENSP00000448059.1:n.706+321_706+325dup | |
| NM_000277.1:c.706+321_706+325dup | NP_000268.1:n.706+321_706+325dup | |
| XM_011538422.1:c.706+321_706+325dup | XP_011536724.1:n.706+321_706+325dup | |
| NM_000277.2:c.706+321_706+325dup | NP_000268.1:n.706+321_706+325dup | |
| NM_001354304.1:c.706+321_706+325dup | NP_001341233.1:n.706+321_706+325dup | |
| XM_017019370.2:c.707-14_707-10dup | XP_016874859.1:n.707-14_707-10dup | |
| NM_000277.3:c.706+321_706+325dup MANE Select | NP_000268.1:n.706+321_706+325dup | |
| NM_001354304.2:c.706+321_706+325dup | NP_001341233.1:n.706+321_706+325dup |