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
ClinVar Variation Id:
135911
ClinVar RCV Id:
RCV000123049
RCV000162705
RCV000437368
RCV000663101
RCV001312160
RCV001357128
RCV003492538
dbSNP Id:
rs568851024
ExAC:
10:89711961 G / A
gnomAD v2:
10-89711961-G-A
gnomAD v3:
10-87952204-G-A
gnomAD v4:
10-87952204-G-A
ERepo:
CA000523/MONDO:0017623/003
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000010.11:g.87952204G>A , CM000672.2:g.87952204G>A | GRCh38 |
| NC_000010.10:g.89711961G>A , CM000672.1:g.89711961G>A | GRCh37 |
| NC_000010.9:g.89701941G>A | NCBI36 |
| NG_007466.2:g.93766G>A , LRG_311:g.93766G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000700029.2:c.579G>A | ENSP00000514759.2:p.Leu193= | |
| ENST00000710265.1:c.579G>A | ENSP00000518161.1:p.Leu193= | |
| ENST00000472832.3:c.579G>A | ENSP00000483066.2:p.Leu193= | |
| ENST00000688158.2:n.1314G>A | ||
| ENST00000688922.2:c.*409G>A | ENSP00000508742.2:n.*409G>A | |
| ENST00000700021.1:c.534G>A | ENSP00000514757.1:p.Leu178= | |
| ENST00000700022.1:c.493-5649G>A | ENSP00000514758.1:n.493-5649G>A | |
| ENST00000700023.1:n.1737G>A | ||
| ENST00000700024.1:n.1971G>A | ||
| ENST00000700025.1:n.1348G>A | ||
| ENST00000700029.1:c.413G>A | ||
| ENST00000706954.1:c.579G>A | ENSP00000516674.1:p.Leu193= | |
| ENST00000706955.1:c.*614G>A | ENSP00000516675.1:n.*614G>A | |
| ENST00000686459.1:c.*165G>A | ENSP00000508909.1:n.*165G>A | |
| ENST00000688158.1:c.*690G>A | ENSP00000509254.1:n.*690G>A | |
| ENST00000688308.1:c.579G>A | ENSP00000508752.1:p.Leu193= | |
| ENST00000688922.1:c.500G>A | ||
| ENST00000693560.1:c.1098G>A | ENSP00000509861.1:p.Leu366= | |
| ENST00000371953.8:c.579G>A MANE Select | ENSP00000361021.3:p.Leu193= | |
| ENST00000371953.7:c.579G>A | ENSP00000361021.3:p.Leu193= | |
| ENST00000472832.2:c.6G>A | ENSP00000483066.1:p.Leu2= | |
| NM_000314.5:c.579G>A | NP_000305.3:p.Leu193= | |
| NM_000314.6:c.579G>A | NP_000305.3:p.Leu193= | |
| NM_001304717.2:c.1098G>A | NP_001291646.2:p.Leu366= | |
| NM_001304718.1:c.-13G>A | NP_001291647.1:n.-13G>A | |
| XM_006717926.2:c.534G>A | XP_006717989.1:p.Leu178= | |
| XM_011539981.1:c.579G>A | XP_011538283.1:p.Leu193= | |
| XM_011539982.1:c.483G>A | XP_011538284.1:p.Leu161= | |
| XR_945791.1:n.1205-5649G>A | ||
| NM_000314.7:c.579G>A | NP_000305.3:p.Leu193= | |
| NM_001304717.5:c.1098G>A | NP_001291646.4:p.Leu366= | |
| NM_001304718.2:c.-13G>A | NP_001291647.1:n.-13G>A | |
| NM_000314.8:c.579G>A MANE Select | NP_000305.3:p.Leu193= |