Linked Data
ClinVar Variation Id:
137210
dbSNP Id:
rs36092484
ExAC:
9:130586657 G / A
gnomAD v2:
9-130586657-G-A
gnomAD v3:
9-127824378-G-A
gnomAD v4:
9-127824378-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824378G>A , CM000671.2:g.127824378G>A | GRCh38 |
| NC_000009.11:g.130586657G>A , CM000671.1:g.130586657G>A | GRCh37 |
| NC_000009.10:g.129626478G>A | NCBI36 |
| NG_009551.1:g.35391C>T , LRG_589:g.35391C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000480266.6:c.514C>T | ENSP00000479015.1:p.Leu172= | |
| ENST00000373203.9:c.1060C>T MANE Select | ENSP00000362299.4:p.Leu354= | |
| ENST00000344849.4:c.1060C>T | ENSP00000341917.3:p.Leu354= | |
| ENST00000373203.8:c.1060C>T | ENSP00000362299.4:p.Leu354= | |
| ENST00000480266.5:c.514C>T | ENSP00000479015.1:p.Leu172= | |
| ENST00000486329.1:n.28C>T | ||
| NM_000118.3:c.1060C>T , LRG_589t1:c.1060C>T | NP_000109.1:p.Leu354= | |
| NM_001114753.2:c.1060C>T , LRG_589t2:c.1060C>T | NP_001108225.1:p.Leu354= | |
| NM_001278138.1:c.514C>T | NP_001265067.1:p.Leu172= | |
| NM_001114753.3:c.1060C>T MANE Select | NP_001108225.1:p.Leu354= | |
| NM_001278138.2:c.514C>T | NP_001265067.1:p.Leu172= |