Linked Data
ClinVar Variation Id:
456620
dbSNP Id:
rs760720879
ExAC:
1:156837917 G / T
gnomAD v2:
1-156837917-G-T
gnomAD v3:
1-156868125-G-T
gnomAD v4:
1-156868125-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.156868125G>T , CM000663.2:g.156868125G>T | GRCh38 |
| NC_000001.10:g.156837917G>T , CM000663.1:g.156837917G>T | GRCh37 |
| NC_000001.9:g.155104541G>T | NCBI36 |
| NG_007493.1:g.57376G>T , LRG_261:g.57376G>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000674537.2:c.288G>T | ENSP00000502725.1:p.Leu96= | |
| ENST00000392302.7:c.288G>T | ENSP00000376120.3:p.Leu96= | |
| ENST00000497019.7:c.288G>T | ENSP00000436804.2:p.Leu96= | |
| ENST00000524377.7:c.450G>T MANE Select | ENSP00000431418.1:p.Leu150= | |
| ENST00000674537.1:c.288G>T | ENSP00000502725.1:p.Leu96= | |
| ENST00000358660.3:c.450G>T | ENSP00000351486.3:p.Leu150= | |
| ENST00000368196.7:c.450G>T | ENSP00000357179.3:p.Leu150= | |
| ENST00000392302.6:c.360G>T | ENSP00000376120.2:p.Leu120= | |
| ENST00000489021.6:n.313-5508G>T | ||
| ENST00000497019.6:c.360G>T | ENSP00000436804.1:p.Leu120= | |
| ENST00000524377.5:c.450G>T | ENSP00000431418.1:p.Leu150= | |
| ENST00000530298.5:n.508G>T | ||
| NM_001007792.1:c.360G>T , LRG_261t1:c.360G>T | NP_001007793.1:p.Leu120= | |
| NM_001012331.1:c.450G>T , LRG_261t2:c.450G>T | NP_001012331.1:p.Leu150= | |
| NM_002529.3:c.450G>T , LRG_261t3:c.450G>T | NP_002520.2:p.Leu150= | |
| NM_001012331.2:c.450G>T | NP_001012331.1:p.Leu150= | |
| NM_002529.4:c.450G>T MANE Select | NP_002520.2:p.Leu150= |