Linked Data
ClinVar Variation Id:
2080829
dbSNP Id:
rs138483823
ExAC:
14:51376728 G / C
gnomAD v2:
14-51376728-G-C
gnomAD v3:
14-50910010-G-C
gnomAD v4:
14-50910010-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000014.9:g.50910010G>C , CM000676.2:g.50910010G>C | GRCh38 |
| NC_000014.8:g.51376728G>C , CM000676.1:g.51376728G>C | GRCh37 |
| NC_000014.7:g.50446478G>C | NCBI36 |
| NG_012796.1:g.39521C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000216392.8:c.2062C>G MANE Select | ENSP00000216392.7:p.Leu688Val | |
| ENST00000216392.7:c.2062C>G | ENSP00000216392.7:p.Leu688Val | |
| ENST00000532107.2:n.235C>G | ||
| ENST00000532462.5:c.2062C>G | ENSP00000431657.1:p.Leu688Val | |
| ENST00000544180.6:c.1960C>G | ENSP00000443787.1:p.Leu654Val | |
| NM_001163940.1:c.1960C>G | NP_001157412.1:p.Leu654Val | |
| NM_002863.4:c.2062C>G | NP_002854.3:p.Leu688Val | |
| NM_002863.5:c.2062C>G MANE Select | NP_002854.3:p.Leu688Val | |
| NM_001163940.2:c.1960C>G | NP_001157412.1:p.Leu654Val |