Linked Data
ClinVar Variation Id:
136074
ClinVar RCV Id:
RCV000123261
RCV000162721
RCV000439984
RCV000858658
RCV001125527
RCV001125528
RCV001450073
RCV002310679
RCV003894971
dbSNP Id:
rs199526820
ExAC:
18:48604831 A / G
gnomAD v2:
18-48604831-A-G
gnomAD v3:
18-51078461-A-G
gnomAD v4:
18-51078461-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078461A>G , CM000680.2:g.51078461A>G | GRCh38 |
| NC_000018.9:g.48604831A>G , CM000680.1:g.48604831A>G | GRCh37 |
| NC_000018.8:g.46858829A>G | NCBI36 |
| NG_013013.2:g.115422A>G , LRG_318:g.115422A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1653A>G | ENSP00000465878.2:p.Leu551= | |
| ENST00000589076.6:c.1653A>G | ENSP00000466934.2:p.Leu551= | |
| ENST00000589941.2:c.1653A>G | ENSP00000465874.2:p.Leu551= | |
| ENST00000590061.2:c.1653A>G | ENSP00000464772.2:p.Leu551= | |
| ENST00000593223.2:c.*1650A>G | ENSP00000466118.2:n.*1650A>G | |
| ENST00000611848.2:c.*305A>G | ENSP00000478613.2:n.*305A>G | |
| ENST00000684953.1:n.3668A>G | ||
| ENST00000685090.1:n.3583A>G | ||
| ENST00000685232.1:n.1874A>G | ||
| ENST00000688574.1:n.1761A>G | ||
| ENST00000691124.1:n.4614A>G | ||
| ENST00000342988.8:c.1653A>G MANE Select | ENSP00000341551.3:p.Leu551= | |
| ENST00000342988.7:c.1653A>G | ENSP00000341551.3:p.Leu551= | |
| ENST00000398417.6:c.1653A>G | ENSP00000381452.1:p.Leu551= | |
| ENST00000586253.1:n.375A>G | ||
| ENST00000588745.5:c.1365A>G | ENSP00000464901.1:p.Leu455= | |
| ENST00000591126.5:n.3654A>G | ||
| ENST00000592186.5:c.1300A>G | ENSP00000468611.1:n.1300A>G | |
| ENST00000611848.1:c.966A>G | ||
| NM_005359.5:c.1653A>G , LRG_318t1:c.1653A>G | NP_005350.1:p.Leu551= | |
| NM_005359.6:c.1653A>G MANE Select | NP_005350.1:p.Leu551= |