Linked Data
ClinVar Variation Id:
291578
dbSNP Id:
rs760253167
ExAC:
1:10421086 G / T
gnomAD v2:
1-10421086-G-T
gnomAD v3:
1-10361028-G-T
gnomAD v4:
1-10361028-G-T
COSMIC:
COSM5634093
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.10361028G>T , CM000663.2:g.10361028G>T | GRCh38 |
| NC_000001.10:g.10421086G>T , CM000663.1:g.10421086G>T | GRCh37 |
| NC_000001.9:g.10343673G>T | NCBI36 |
| NG_008069.1:g.155323G>T , LRG_252:g.155323G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000696502.1:c.4218G>T | ENSP00000512668.1:p.Leu1406Phe | |
| ENST00000696503.1:c.4080G>T | ENSP00000512669.1:p.Leu1360Phe | |
| ENST00000696504.1:c.4080G>T | ENSP00000512670.1:p.Leu1360Phe | |
| ENST00000676179.1:c.4155G>T MANE Select | ENSP00000502065.1:p.Leu1385Phe | |
| ENST00000263934.10:c.4017G>T | ENSP00000263934.6:p.Leu1339Phe | |
| ENST00000377081.5:c.4155G>T | ENSP00000366284.1:p.Leu1385Phe | |
| ENST00000377086.5:c.4155G>T | ENSP00000366290.1:p.Leu1385Phe | |
| ENST00000465635.5:n.610G>T | ||
| ENST00000483340.1:n.691G>T | ||
| ENST00000620295.2:c.4113G>T | ENSP00000478500.1:p.Leu1371Phe | |
| ENST00000622724.3:c.4077G>T | ENSP00000480063.1:p.Leu1359Phe | |
| ENST00000635499.1:c.200G>T | ||
| NM_015074.3:c.4017G>T , LRG_252t1:c.4017G>T | NP_055889.2:p.Leu1339Phe | |
| XR_946953.1:n.401+393C>A | ||
| NM_001365951.1:c.4155G>T | NP_001352880.1:p.Leu1385Phe | |
| NM_001365952.1:c.4155G>T | NP_001352881.1:p.Leu1385Phe | |
| XR_946953.2:n.276+393C>A | ||
| NM_001365951.3:c.4155G>T MANE Select | NP_001352880.1:p.Leu1385Phe |