Linked Data
ClinVar Variation Id:
2195963
ClinVar RCV Id:
RCV002633301
dbSNP Id:
rs746165094
ExAC:
4:6302651 C / G
gnomAD v2:
4-6302651-C-G
gnomAD v3:
4-6300924-C-G
gnomAD v4:
4-6300924-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300924C>G , CM000666.2:g.6300924C>G | GRCh38 |
| NC_000004.11:g.6302651C>G , CM000666.1:g.6302651C>G | GRCh37 |
| NC_000004.10:g.6353552C>G | NCBI36 |
| NG_011700.1:g.36075C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1165C>G | ENSP00000507852.1:p.Leu389Val | |
| ENST00000683395.1:c.1106C>G | ||
| ENST00000684087.1:c.1129C>G | ENSP00000506978.1:p.Leu377Val | |
| ENST00000506362.2:c.880C>G | ENSP00000424103.2:p.Leu294Val | |
| ENST00000673642.1:c.788C>G | ENSP00000501242.1:p.Pro263Arg | |
| ENST00000673991.1:c.1165C>G | ENSP00000501033.1:p.Leu389Val | |
| ENST00000226760.5:c.1129C>G MANE Select | ENSP00000226760.1:p.Leu377Val | |
| ENST00000503569.5:c.1129C>G | ENSP00000423337.1:p.Leu377Val | |
| ENST00000507765.1:n.1314C>G | ||
| NM_001145853.1:c.1129C>G | NP_001139325.1:p.Leu377Val | |
| NM_006005.3:c.1129C>G MANE Select | NP_005996.2:p.Leu377Val | |
| XM_017008586.1:c.1138C>G | XP_016864075.1:p.Leu380Val |