Linked Data
ClinVar Variation Id:
319401
dbSNP Id:
rs144866271
ExAC:
16:4848092 G / C
gnomAD v2:
16-4848092-G-C
gnomAD v3:
16-4798091-G-C
gnomAD v4:
16-4798091-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4798091G>C , CM000678.2:g.4798091G>C | GRCh38 |
| NC_000016.9:g.4848092G>C , CM000678.1:g.4848092G>C | GRCh37 |
| NC_000016.8:g.4788093G>C | NCBI36 |
| NG_032174.1:g.9860C>G , LRG_455:g.9860C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.625C>G MANE Select | ENSP00000322832.6:p.Leu209Val | |
| ENST00000322048.11:c.625C>G | ENSP00000322832.5:p.Leu209Val | |
| ENST00000586153.1:c.271C>G | ENSP00000464699.1:p.Leu91Val | |
| ENST00000586336.5:n.724C>G | ||
| ENST00000586504.5:c.405C>G | ||
| ENST00000587377.5:c.638C>G | ENSP00000468343.1:p.Pro213Arg | |
| ENST00000587711.5:c.310C>G | ENSP00000467459.1:p.Leu104Val | |
| ENST00000587843.5:c.*363C>G | ENSP00000465970.1:n.*363C>G | |
| ENST00000588201.5:c.*616C>G | ENSP00000466529.1:n.*616C>G | |
| ENST00000589543.5:n.582C>G | ||
| ENST00000591292.5:n.1954C>G | ||
| ENST00000591392.5:c.553C>G | ENSP00000467509.1:p.Leu185Val | |
| ENST00000592019.1:c.77-276C>G | ||
| NM_024589.2:c.625C>G , LRG_455t1:c.625C>G | NP_078865.1:p.Leu209Val | |
| NR_046480.1:n.949C>G | ||
| XM_006720947.2:c.625C>G | XP_006721010.1:p.Leu209Val | |
| XM_006720948.2:c.355C>G | XP_006721011.1:p.Leu119Val | |
| XM_006720947.4:c.625C>G | XP_006721010.1:p.Leu209Val | |
| XM_006720948.4:c.355C>G | XP_006721011.1:p.Leu119Val | |
| NM_024589.3:c.625C>G MANE Select | NP_078865.1:p.Leu209Val | |
| NR_046480.2:n.632C>G |