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= |