Linked Data
ClinVar Variation Id:
40729
dbSNP Id:
rs375550588
ExAC:
2:39214706 A / T
gnomAD v2:
2-39214706-A-T
gnomAD v3:
2-38987565-A-T
gnomAD v4:
2-38987565-A-T
PubMed:
PMID:21387466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.38987565A>T , CM000664.2:g.38987565A>T | GRCh38 |
| NC_000002.11:g.39214706A>T , CM000664.1:g.39214706A>T | GRCh37 |
| NC_000002.10:g.39068210A>T | NCBI36 |
| NG_007530.1:g.137899T>A , LRG_754:g.137899T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685279.1:c.2185T>A | ENSP00000509424.1:p.Leu729Ile | |
| ENST00000686849.1:n.209T>A | ||
| ENST00000690876.1:c.*724T>A | ENSP00000508955.1:n.*724T>A | |
| ENST00000692089.1:c.3307T>A | ENSP00000508626.1:p.Leu1103Ile | |
| ENST00000692227.1:c.1069T>A | ENSP00000509138.1:p.Leu357Ile | |
| ENST00000402219.8:c.3418T>A MANE Select | ENSP00000384675.2:p.Leu1140Ile | |
| ENST00000395038.6:c.3373T>A | ENSP00000378479.2:p.Leu1125Ile | |
| ENST00000402219.6:c.3418T>A | ENSP00000384675.2:p.Leu1140Ile | |
| ENST00000426016.5:c.3418T>A | ENSP00000387784.1:p.Leu1140Ile | |
| ENST00000469581.1:n.161T>A | ||
| NM_005633.3:c.3418T>A , LRG_754t1:c.3418T>A | NP_005624.2:p.Leu1140Ile | |
| XM_005264515.3:c.3373T>A | XP_005264572.1:p.Leu1125Ile | |
| XM_011533060.1:c.3511T>A | XP_011531362.1:p.Leu1171Ile | |
| XM_011533061.1:c.3466T>A | XP_011531363.1:p.Leu1156Ile | |
| XM_011533062.1:c.3397T>A | XP_011531364.1:p.Leu1133Ile | |
| XM_011533063.1:c.3394T>A | XP_011531365.1:p.Leu1132Ile | |
| XM_011533064.1:c.3247T>A | XP_011531366.1:p.Leu1083Ile | |
| XM_011533065.1:c.3511T>A | XP_011531367.1:p.Leu1171Ile | |
| XM_011533066.1:c.2353T>A | XP_011531368.1:p.Leu785Ile | |
| XM_005264515.4:c.3373T>A | XP_005264572.1:p.Leu1125Ile | |
| XM_011533062.2:c.3397T>A | XP_011531364.1:p.Leu1133Ile | |
| XM_011533064.2:c.3247T>A | XP_011531366.1:p.Leu1083Ile | |
| NM_001382394.1:c.3397T>A | NP_001369323.1:p.Leu1133Ile | |
| NM_001382395.1:c.3373T>A | NP_001369324.1:p.Leu1125Ile | |
| NM_005633.4:c.3418T>A MANE Select | NP_005624.2:p.Leu1140Ile |