Linked Data
ClinVar Variation Id:
554111
dbSNP Id:
rs201739856
ExAC:
2:73716898 C / G
gnomAD v2:
2-73716898-C-G
gnomAD v3:
2-73489771-C-G
gnomAD v4:
2-73489771-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.73489771C>G , CM000664.2:g.73489771C>G | GRCh38 |
| NC_000002.11:g.73716898C>G , CM000664.1:g.73716898C>G | GRCh37 |
| NC_000002.10:g.73570406C>G | NCBI36 |
| NG_011690.1:g.109019C>G , LRG_741:g.109019C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682565.1:c.7431C>G | ENSP00000507671.1:p.Phe2477Leu | |
| ENST00000682801.1:c.7431C>G | ENSP00000507862.1:p.Phe2477Leu | |
| ENST00000682859.1:c.7431C>G | ENSP00000508222.1:p.Phe2477Leu | |
| ENST00000683791.1:c.823C>G | ||
| ENST00000684460.1:c.4883C>G | ||
| ENST00000684548.1:c.7431C>G | ENSP00000507421.1:p.Phe2477Leu | |
| ENST00000684590.1:c.1878C>G | ENSP00000507376.1:p.Phe626Leu | |
| ENST00000684656.1:c.4883C>G | ||
| ENST00000613296.6:c.7812C>G MANE Select | ENSP00000482968.1:p.Phe2604Leu | |
| ENST00000651434.1:c.896-30004C>G | ||
| ENST00000423048.5:c.2643C>G | ENSP00000399833.1:p.Phe881Leu | |
| ENST00000484298.5:c.7686C>G | ENSP00000478155.1:p.Phe2562Leu | |
| ENST00000613296.4:c.7812C>G | ENSP00000482968.1:p.Phe2604Leu | |
| ENST00000614410.4:c.7812C>G | ENSP00000479094.1:p.Phe2604Leu | |
| ENST00000620466.4:n.1615C>G | ||
| NM_015120.4:c.7815C>G , LRG_741t1:c.7815C>G | NP_055935.4:p.Phe2605Leu | |
| NM_001378454.1:c.7812C>G MANE Select | NP_001365383.1:p.Phe2604Leu |