Linked Data
ClinVar Variation Id:
40702
ClinVar RCV Id:
RCV000038532
RCV000233902
RCV000680310
RCV000760994
RCV001138721
RCV001143784
RCV001813295
RCV002453284
dbSNP Id:
rs142004123
ExAC:
2:39239286 G / T
gnomAD v2:
2-39239286-G-T
gnomAD v3:
2-39012145-G-T
gnomAD v4:
2-39012145-G-T
ERepo:
CA136098/MONDO:0021060/004
PubMed:
PMID:23891399
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.39012145G>T , CM000664.2:g.39012145G>T | GRCh38 |
| NC_000002.11:g.39239286G>T , CM000664.1:g.39239286G>T | GRCh37 |
| NC_000002.10:g.39092790G>T | NCBI36 |
| NG_007530.1:g.113319C>A , LRG_754:g.113319C>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.1138C>A | ENSP00000509424.1:p.Leu380Ile | |
| ENST00000688043.1:n.3703C>A | ||
| ENST00000689668.1:n.2378C>A | ||
| ENST00000690514.1:n.460C>A | ||
| ENST00000690876.1:c.2260C>A | ENSP00000508955.1:p.Leu754Ile | |
| ENST00000691229.1:c.2260C>A | ENSP00000510437.1:p.Leu754Ile | |
| ENST00000692089.1:c.2260C>A | ENSP00000508626.1:p.Leu754Ile | |
| ENST00000692227.1:c.67C>A | ENSP00000509138.1:p.Leu23Ile | |
| ENST00000692620.1:c.934+1315C>A | ENSP00000509311.1:n.934+1315C>A | |
| ENST00000402219.8:c.2371C>A MANE Select | ENSP00000384675.2:p.Leu791Ile | |
| ENST00000395038.6:c.2371C>A | ENSP00000378479.2:p.Leu791Ile | |
| ENST00000402219.6:c.2371C>A | ENSP00000384675.2:p.Leu791Ile | |
| ENST00000426016.5:c.2371C>A | ENSP00000387784.1:p.Leu791Ile | |
| NM_005633.3:c.2371C>A , LRG_754t1:c.2371C>A | NP_005624.2:p.Leu791Ile | |
| XM_005264515.3:c.2371C>A | XP_005264572.1:p.Leu791Ile | |
| XM_011533060.1:c.2464C>A | XP_011531362.1:p.Leu822Ile | |
| XM_011533061.1:c.2464C>A | XP_011531363.1:p.Leu822Ile | |
| XM_011533062.1:c.2350C>A | XP_011531364.1:p.Leu784Ile | |
| XM_011533063.1:c.2347C>A | XP_011531365.1:p.Leu783Ile | |
| XM_011533064.1:c.2200C>A | XP_011531366.1:p.Leu734Ile | |
| XM_011533065.1:c.2464C>A | XP_011531367.1:p.Leu822Ile | |
| XM_011533066.1:c.1306C>A | XP_011531368.1:p.Leu436Ile | |
| XM_005264515.4:c.2371C>A | XP_005264572.1:p.Leu791Ile | |
| XM_011533062.2:c.2350C>A | XP_011531364.1:p.Leu784Ile | |
| XM_011533064.2:c.2200C>A | XP_011531366.1:p.Leu734Ile | |
| NM_001382394.1:c.2350C>A | NP_001369323.1:p.Leu784Ile | |
| NM_001382395.1:c.2371C>A | NP_001369324.1:p.Leu791Ile | |
| NM_005633.4:c.2371C>A MANE Select | NP_005624.2:p.Leu791Ile |