Linked Data
ClinVar Variation Id:
365091
dbSNP Id:
rs140155568
ExAC:
9:130587170 C / T
gnomAD v2:
9-130587170-C-T
gnomAD v4:
9-127824891-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.127824891C>T , CM000671.2:g.127824891C>T | GRCh38 |
| NC_000009.11:g.130587170C>T , CM000671.1:g.130587170C>T | GRCh37 |
| NC_000009.10:g.129626991C>T | NCBI36 |
| NG_009551.1:g.34878G>A , LRG_589:g.34878G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000480266.6:c.354G>A | ENSP00000479015.1:p.Leu118= | |
| ENST00000373203.9:c.900G>A MANE Select | ENSP00000362299.4:p.Leu300= | |
| ENST00000344849.4:c.900G>A | ENSP00000341917.3:p.Leu300= | |
| ENST00000373203.8:c.900G>A | ENSP00000362299.4:p.Leu300= | |
| ENST00000480266.5:c.354G>A | ENSP00000479015.1:p.Leu118= | |
| NM_000118.3:c.900G>A , LRG_589t1:c.900G>A | NP_000109.1:p.Leu300= | |
| NM_001114753.2:c.900G>A , LRG_589t2:c.900G>A | NP_001108225.1:p.Leu300= | |
| NM_001278138.1:c.354G>A | NP_001265067.1:p.Leu118= | |
| NM_001114753.3:c.900G>A MANE Select | NP_001108225.1:p.Leu300= | |
| NM_001278138.2:c.354G>A | NP_001265067.1:p.Leu118= |