Linked Data
ClinVar Variation Id:
180546
dbSNP Id:
rs730880227
ExAC:
3:14183151 C / G
gnomAD v2:
3-14183151-C-G
gnomAD v3:
3-14141651-C-G
gnomAD v4:
3-14141651-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.14141651C>G , CM000665.2:g.14141651C>G | GRCh38 |
| NC_000003.11:g.14183151C>G , CM000665.1:g.14183151C>G | GRCh37 |
| NC_000003.10:g.14158152C>G | NCBI36 |
| NG_008975.1:g.21712C>G , LRG_435:g.21712C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000432444.2:c.*1089C>G | ENSP00000395617.1:n.*1089C>G | |
| ENST00000306077.5:c.1059C>G MANE Select | ENSP00000303992.5:p.Phe353Leu | |
| ENST00000306077.4:c.1059C>G | ENSP00000303992.4:p.Phe353Leu | |
| ENST00000601399.3:n.327+2354C>G | ||
| ENST00000608606.1:c.236+2354C>G | ||
| NM_024334.2:c.1059C>G , LRG_435t1:c.1059C>G | NP_077310.1:p.Phe353Leu | |
| XM_011534109.1:c.954C>G | XP_011532411.1:p.Phe318Leu | |
| XM_017007176.2:c.954C>G | XP_016862665.1:p.Phe318Leu | |
| NM_024334.3:c.1059C>G MANE Select | NP_077310.1:p.Phe353Leu |