SUSPENSION NOTICE:2024-08-07T19:00:00-0500 — 2024-10-16T08:00:00-0500
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.
This migration is underway but taking longer than originally estimated.
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.
This migration is underway but taking longer than originally estimated.
Linked Data
ClinVar Variation Id:
994902
dbSNP Id:
rs377476335
ExAC:
20:43042336 G / A
gnomAD v2:
20-43042336-G-A
gnomAD v3:
20-44413696-G-A
gnomAD v4:
20-44413696-G-A
ERepo:
CA9870225/MONDO:0015967/085
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.44413696G>A , CM000682.2:g.44413696G>A | GRCh38 |
| NC_000020.10:g.43042336G>A , CM000682.1:g.43042336G>A | GRCh37 |
| NC_000020.9:g.42475750G>A | NCBI36 |
| NG_009818.1:g.62896G>A , LRG_483:g.62896G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000316673.9:c.322G>A MANE Select | ENSP00000315180.4:p.Val108Ile | |
| ENST00000316099.10:c.388G>A | ENSP00000312987.3:p.Val130Ile | |
| ENST00000619550.5:c.362G>A | ||
| ENST00000683148.1:n.364G>A | ||
| ENST00000683657.1:n.1512G>A | ||
| ENST00000316099.9:c.388G>A | ENSP00000312987.3:p.Val130Ile | |
| ENST00000316099.8:c.388G>A | ENSP00000312987.3:p.Val130Ile | |
| ENST00000316673.8:c.322G>A | ENSP00000315180.4:p.Val108Ile | |
| ENST00000372920.1:c.*155G>A | ENSP00000362011.1:n.*155G>A | |
| ENST00000415691.2:c.388G>A | ENSP00000412111.1:p.Val130Ile | |
| ENST00000443598.6:c.388G>A | ENSP00000410911.2:p.Val130Ile | |
| ENST00000457232.5:c.322G>A | ENSP00000396216.1:p.Val108Ile | |
| ENST00000609795.5:c.322G>A | ENSP00000476609.1:p.Val108Ile | |
| ENST00000619550.4:c.313G>A | ENSP00000481331.1:p.Val105Ile | |
| NM_000457.4:c.388G>A , LRG_483t2:c.388G>A | NP_000448.3:p.Val130Ile | |
| NM_001030003.2:c.322G>A | NP_001025174.1:p.Val108Ile | |
| NM_001030004.2:c.322G>A | NP_001025175.1:p.Val108Ile | |
| NM_001258355.1:c.367G>A | NP_001245284.1:p.Val123Ile | |
| NM_001287182.1:c.313G>A | NP_001274111.1:p.Val105Ile | |
| NM_001287183.1:c.313G>A , LRG_483t3:c.313G>A | NP_001274112.1:p.Val105Ile | |
| NM_001287184.1:c.313G>A | NP_001274113.1:p.Val105Ile | |
| NM_175914.4:c.322G>A , LRG_483t1:c.322G>A | NP_787110.2:p.Val108Ile | |
| NM_178849.2:c.388G>A | NP_849180.1:p.Val130Ile | |
| NM_178850.2:c.388G>A | NP_849181.1:p.Val130Ile | |
| XM_005260407.2:c.505G>A | XP_005260464.1:p.Val169Ile | |
| XM_011528797.1:c.436G>A | XP_011527099.1:p.Val146Ile | |
| XM_011528798.1:c.436G>A | XP_011527100.1:p.Val146Ile | |
| XM_005260407.4:c.505G>A | XP_005260464.1:p.Val169Ile | |
| NM_001030003.3:c.322G>A | NP_001025174.1:p.Val108Ile | |
| NM_001030004.3:c.322G>A | NP_001025175.1:p.Val108Ile | |
| NM_001258355.2:c.367G>A | NP_001245284.1:p.Val123Ile | |
| NM_001287182.2:c.313G>A | NP_001274111.1:p.Val105Ile | |
| NM_001287184.2:c.313G>A | NP_001274113.1:p.Val105Ile | |
| NM_178849.3:c.388G>A | NP_849180.1:p.Val130Ile | |
| NM_178850.3:c.388G>A | NP_849181.1:p.Val130Ile | |
| NM_000457.5:c.388G>A | NP_000448.3:p.Val130Ile | |
| NM_000457.6:c.388G>A | NP_000448.3:p.Val130Ile | |
| NM_001287183.2:c.313G>A | NP_001274112.1:p.Val105Ile | |
| NM_175914.5:c.322G>A MANE Select | NP_787110.2:p.Val108Ile |