Linked Data
ClinVar Variation Id:
41788
ClinVar RCV Id:
RCV000034710
RCV000123259
RCV000148889
RCV000213006
RCV000327173
RCV000383039
RCV000771070
RCV001170612
RCV001420980
RCV002310997
dbSNP Id:
rs149755320
ExAC:
18:48604751 A / G
gnomAD v2:
18-48604751-A-G
gnomAD v3:
18-51078381-A-G
gnomAD v4:
18-51078381-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078381A>G , CM000680.2:g.51078381A>G | GRCh38 |
| NC_000018.9:g.48604751A>G , CM000680.1:g.48604751A>G | GRCh37 |
| NC_000018.8:g.46858749A>G | NCBI36 |
| NG_013013.2:g.115342A>G , LRG_318:g.115342A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1573A>G | ENSP00000465878.2:p.Ile525Val | |
| ENST00000589076.6:c.1573A>G | ENSP00000466934.2:p.Ile525Val | |
| ENST00000589941.2:c.1573A>G | ENSP00000465874.2:p.Ile525Val | |
| ENST00000590061.2:c.1573A>G | ENSP00000464772.2:p.Ile525Val | |
| ENST00000593223.2:c.*1570A>G | ENSP00000466118.2:n.*1570A>G | |
| ENST00000611848.2:c.*225A>G | ENSP00000478613.2:n.*225A>G | |
| ENST00000684953.1:n.3588A>G | ||
| ENST00000685090.1:n.3503A>G | ||
| ENST00000685232.1:n.1794A>G | ||
| ENST00000688574.1:n.1681A>G | ||
| ENST00000691124.1:n.4534A>G | ||
| ENST00000342988.8:c.1573A>G MANE Select | ENSP00000341551.3:p.Ile525Val | |
| ENST00000342988.7:c.1573A>G | ENSP00000341551.3:p.Ile525Val | |
| ENST00000398417.6:c.1573A>G | ENSP00000381452.1:p.Ile525Val | |
| ENST00000586253.1:n.295A>G | ||
| ENST00000588745.5:c.1285A>G | ENSP00000464901.1:p.Ile429Val | |
| ENST00000591126.5:n.3574A>G | ||
| ENST00000592186.5:c.1220A>G | ENSP00000468611.1:n.1220A>G | |
| ENST00000611848.1:c.886A>G | ||
| NM_005359.5:c.1573A>G , LRG_318t1:c.1573A>G | NP_005350.1:p.Ile525Val | |
| NM_005359.6:c.1573A>G MANE Select | NP_005350.1:p.Ile525Val |