Linked Data
ClinVar Variation Id:
1359262
dbSNP Id:
rs557974956
ExAC:
4:6302572 C / G
gnomAD v2:
4-6302572-C-G
gnomAD v3:
4-6300845-C-G
gnomAD v4:
4-6300845-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6300845C>G , CM000666.2:g.6300845C>G | GRCh38 |
| NC_000004.11:g.6302572C>G , CM000666.1:g.6302572C>G | GRCh37 |
| NC_000004.10:g.6353473C>G | NCBI36 |
| NG_011700.1:g.35996C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1086C>G | ENSP00000507852.1:p.Phe362Leu | |
| ENST00000683395.1:c.1027C>G | ||
| ENST00000684087.1:c.1050C>G | ENSP00000506978.1:p.Phe350Leu | |
| ENST00000506362.2:c.801C>G | ENSP00000424103.2:p.Phe267Leu | |
| ENST00000673642.1:c.709C>G | ENSP00000501242.1:p.Leu237Val | |
| ENST00000673991.1:c.1086C>G | ENSP00000501033.1:p.Phe362Leu | |
| ENST00000226760.5:c.1050C>G MANE Select | ENSP00000226760.1:p.Phe350Leu | |
| ENST00000503569.5:c.1050C>G | ENSP00000423337.1:p.Phe350Leu | |
| ENST00000506362.1:c.683C>G | ||
| ENST00000507765.1:n.1235C>G | ||
| NM_001145853.1:c.1050C>G | NP_001139325.1:p.Phe350Leu | |
| NM_006005.3:c.1050C>G MANE Select | NP_005996.2:p.Phe350Leu | |
| XM_017008586.1:c.1059C>G | XP_016864075.1:p.Phe353Leu |