Linked Data
ClinVar Variation Id:
216779
dbSNP Id:
rs148214958
ExAC:
19:50335628 C / G
gnomAD v2:
19-50335628-C-G
gnomAD v3:
19-49832371-C-G
gnomAD v4:
19-49832371-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.49832371C>G , CM000681.2:g.49832371C>G | GRCh38 |
| NC_000019.9:g.50335628C>G , CM000681.1:g.50335628C>G | GRCh37 |
| NC_000019.8:g.55027440C>G | NCBI36 |
| NG_017091.1:g.19093C>G , LRG_368:g.19093C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000593767.3:c.1438C>G | ENSP00000470692.3:p.Leu480Val | |
| ENST00000312865.10:c.1438C>G MANE Select | ENSP00000326767.5:p.Leu480Val | |
| ENST00000538643.5:c.799C>G | ENSP00000437496.1:p.Leu267Val | |
| ENST00000595185.5:c.688+2423C>G | ENSP00000470027.1:n.688+2423C>G | |
| ENST00000599722.1:n.460C>G | ||
| ENST00000612791.4:c.761+2209C>G | ENSP00000479851.1:n.761+2209C>G | |
| ENST00000612854.4:c.450+3356C>G | ENSP00000482155.1:n.450+3356C>G | |
| ENST00000617849.4:c.643C>G | ENSP00000484882.1:p.Leu215Val | |
| ENST00000618715.4:c.643C>G | ENSP00000480731.1:p.Leu215Val | |
| ENST00000620467.4:c.972+1613C>G | ENSP00000482659.1:n.972+1613C>G | |
| ENST00000622402.4:c.146-3456C>G | ENSP00000478074.1:n.146-3456C>G | |
| NM_030973.3:c.1438C>G , LRG_368t1:c.1438C>G | NP_112235.2:p.Leu480Val | |
| XM_011527353.1:c.1438C>G | XP_011525655.1:p.Leu480Val | |
| NM_001378355.1:c.1438C>G | NP_001365284.1:p.Leu480Val | |
| NM_030973.4:c.1438C>G MANE Select | NP_112235.2:p.Leu480Val |