Linked Data
ClinVar Variation Id:
922800
ClinVar RCV Id:
RCV001183095
dbSNP Id:
rs1060504168
gnomAD v4:
16-68819406-A-G
MyVariant Identifiers:
chr16:g.68853309A>G (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.68819406A>G , CM000678.2:g.68819406A>G | GRCh38 |
| NC_000016.9:g.68853309A>G , CM000678.1:g.68853309A>G | GRCh37 |
| NC_000016.8:g.67410810A>G | NCBI36 |
| NG_008021.1:g.87115A>G , LRG_301:g.87115A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000261769.10:c.1692A>G MANE Select | ENSP00000261769.4:p.Leu564= | |
| ENST00000261769.9:c.1692A>G | ENSP00000261769.4:p.Leu564= | |
| ENST00000422392.6:c.1509A>G | ENSP00000414946.2:p.Leu503= | |
| ENST00000562836.5:n.1763A>G | ||
| ENST00000566510.5:c.*358A>G | ENSP00000458139.1:n.*358A>G | |
| ENST00000566612.5:c.1566-2595A>G | ENSP00000454782.1:n.1566-2595A>G | |
| ENST00000611625.4:c.1755A>G | ENSP00000481063.1:p.Leu585= | |
| ENST00000612417.4:c.1692A>G | ENSP00000478360.1:p.Leu564= | |
| ENST00000621016.4:c.1692A>G | ENSP00000480664.1:p.Leu564= | |
| NM_004360.3:c.1692A>G , LRG_301t1:c.1692A>G | NP_004351.1:p.Leu564= | |
| XM_011523488.1:c.957A>G | XP_011521790.1:p.Leu319= | |
| XM_011523489.1:c.957A>G | XP_011521791.1:p.Leu319= | |
| NM_001317184.1:c.1509A>G | NP_001304113.1:p.Leu503= | |
| NM_001317185.1:c.144A>G | NP_001304114.1:p.Leu48= | |
| NM_001317186.1:c.-254-2595A>G | NP_001304115.1:n.-254-2595A>G | |
| NM_004360.4:c.1692A>G | NP_004351.1:p.Leu564= | |
| NM_004360.5:c.1692A>G MANE Select | NP_004351.1:p.Leu564= | |
| NM_001317184.2:c.1509A>G | NP_001304113.1:p.Leu503= | |
| NM_001317185.2:c.144A>G | NP_001304114.1:p.Leu48= | |
| NM_001317186.2:c.-254-2595A>G | NP_001304115.1:n.-254-2595A>G |