Linked Data
dbSNP Id:
rs752188428
ExAC:
16:4848131 G / C
gnomAD v2:
16-4848131-G-C
gnomAD v4:
16-4798130-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798130G>C , CM000678.2:g.4798130G>C | GRCh38 |
| NC_000016.9:g.4848131G>C , CM000678.1:g.4848131G>C | GRCh37 |
| NC_000016.8:g.4788132G>C | NCBI36 |
| NG_032174.1:g.9821C>G , LRG_455:g.9821C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.586C>G MANE Select | ENSP00000322832.6:p.Leu196Val | |
| ENST00000322048.11:c.586C>G | ENSP00000322832.5:p.Leu196Val | |
| ENST00000586153.1:c.232C>G | ENSP00000464699.1:p.Leu78Val | |
| ENST00000586336.5:n.685C>G | ||
| ENST00000586504.5:c.366C>G | ||
| ENST00000587377.5:c.599C>G | ENSP00000468343.1:p.Pro200Arg | |
| ENST00000587711.5:c.271C>G | ENSP00000467459.1:p.Leu91Val | |
| ENST00000587843.5:c.*324C>G | ENSP00000465970.1:n.*324C>G | |
| ENST00000588201.5:c.*577C>G | ENSP00000466529.1:n.*577C>G | |
| ENST00000589543.5:n.543C>G | ||
| ENST00000591292.5:n.1915C>G | ||
| ENST00000591392.5:c.514C>G | ENSP00000467509.1:p.Leu172Val | |
| ENST00000592019.1:c.77-315C>G | ||
| NM_024589.2:c.586C>G , LRG_455t1:c.586C>G | NP_078865.1:p.Leu196Val | |
| NR_046480.1:n.910C>G | ||
| XM_006720947.2:c.586C>G | XP_006721010.1:p.Leu196Val | |
| XM_006720948.2:c.316C>G | XP_006721011.1:p.Leu106Val | |
| XM_006720947.4:c.586C>G | XP_006721010.1:p.Leu196Val | |
| XM_006720948.4:c.316C>G | XP_006721011.1:p.Leu106Val | |
| NM_024589.3:c.586C>G MANE Select | NP_078865.1:p.Leu196Val | |
| NR_046480.2:n.593C>G |