Linked Data
dbSNP Id:
rs763531300
ExAC:
16:4849711 G / C
gnomAD v2:
16-4849711-G-C
gnomAD v4:
16-4799710-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799710G>C , CM000678.2:g.4799710G>C | GRCh38 |
| NC_000016.9:g.4849711G>C , CM000678.1:g.4849711G>C | GRCh37 |
| NC_000016.8:g.4789712G>C | NCBI36 |
| NG_032174.1:g.8241C>G , LRG_455:g.8241C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.408C>G MANE Select | ENSP00000322832.6:p.Phe136Leu | |
| ENST00000322048.11:c.408C>G | ENSP00000322832.5:p.Phe136Leu | |
| ENST00000585653.1:n.540C>G | ||
| ENST00000586153.1:c.153C>G | ENSP00000464699.1:p.Phe51Leu | |
| ENST00000586336.5:n.507C>G | ||
| ENST00000586504.5:c.188C>G | ||
| ENST00000587377.5:c.408C>G | ENSP00000468343.1:p.Phe136Leu | |
| ENST00000587711.5:c.118-1043C>G | ENSP00000467459.1:n.118-1043C>G | |
| ENST00000587843.5:c.*146C>G | ENSP00000465970.1:n.*146C>G | |
| ENST00000588201.5:c.*265C>G | ENSP00000466529.1:n.*265C>G | |
| ENST00000589543.5:n.365C>G | ||
| ENST00000591292.5:n.1737C>G | ||
| ENST00000591392.5:c.336C>G | ENSP00000467509.1:p.Phe112Leu | |
| ENST00000592019.1:c.76+51C>G | ||
| NM_024589.2:c.408C>G , LRG_455t1:c.408C>G | NP_078865.1:p.Phe136Leu | |
| NR_046480.1:n.732C>G | ||
| XM_006720947.2:c.408C>G | XP_006721010.1:p.Phe136Leu | |
| XM_006720948.2:c.138C>G | XP_006721011.1:p.Phe46Leu | |
| XM_006720947.4:c.408C>G | XP_006721010.1:p.Phe136Leu | |
| XM_006720948.4:c.138C>G | XP_006721011.1:p.Phe46Leu | |
| NM_024589.3:c.408C>G MANE Select | NP_078865.1:p.Phe136Leu | |
| NR_046480.2:n.415C>G |