Linked Data
ClinVar Variation Id:
461608
dbSNP Id:
rs145588848
ExAC:
16:4849741 C / G
gnomAD v2:
16-4849741-C-G
gnomAD v3:
16-4799740-C-G
gnomAD v4:
16-4799740-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.4799740C>G , CM000678.2:g.4799740C>G | GRCh38 |
| NC_000016.9:g.4849741C>G , CM000678.1:g.4849741C>G | GRCh37 |
| NC_000016.8:g.4789742C>G | NCBI36 |
| NG_032174.1:g.8211G>C , LRG_455:g.8211G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000322048.12:c.378G>C MANE Select | ENSP00000322832.6:p.Leu126= | |
| ENST00000322048.11:c.378G>C | ENSP00000322832.5:p.Leu126= | |
| ENST00000585653.1:n.510G>C | ||
| ENST00000586153.1:c.123G>C | ENSP00000464699.1:p.Leu41= | |
| ENST00000586336.5:n.477G>C | ||
| ENST00000586504.5:c.158G>C | ||
| ENST00000587377.5:c.378G>C | ENSP00000468343.1:p.Leu126= | |
| ENST00000587711.5:c.118-1073G>C | ENSP00000467459.1:n.118-1073G>C | |
| ENST00000587843.5:c.*116G>C | ENSP00000465970.1:n.*116G>C | |
| ENST00000588201.5:c.*235G>C | ENSP00000466529.1:n.*235G>C | |
| ENST00000589543.5:n.335G>C | ||
| ENST00000591292.5:n.1707G>C | ||
| ENST00000591392.5:c.306G>C | ENSP00000467509.1:p.Leu102= | |
| ENST00000592019.1:c.76+21G>C | ||
| NM_024589.2:c.378G>C , LRG_455t1:c.378G>C | NP_078865.1:p.Leu126= | |
| NR_046480.1:n.702G>C | ||
| XM_006720947.2:c.378G>C | XP_006721010.1:p.Leu126= | |
| XM_006720948.2:c.108G>C | XP_006721011.1:p.Leu36= | |
| XM_006720947.4:c.378G>C | XP_006721010.1:p.Leu126= | |
| XM_006720948.4:c.108G>C | XP_006721011.1:p.Leu36= | |
| NM_024589.3:c.378G>C MANE Select | NP_078865.1:p.Leu126= | |
| NR_046480.2:n.385G>C |