Linked Data
ClinVar Variation Id:
30150
ClinVar RCV Id:
RCV000023061
RCV000059733
RCV000624818
RCV000763031
RCV000635427
RCV001249691
RCV001260808
RCV001376590
RCV001375955
dbSNP Id:
rs281875322
gnomAD v2:
18-48604676-A-G
gnomAD v4:
18-51078306-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000018.10:g.51078306A>G , CM000680.2:g.51078306A>G | GRCh38 |
| NC_000018.9:g.48604676A>G , CM000680.1:g.48604676A>G | GRCh37 |
| NC_000018.8:g.46858674A>G | NCBI36 |
| NG_013013.2:g.115267A>G , LRG_318:g.115267A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000588860.6:c.1498A>G | ENSP00000465878.2:p.Ile500Val | |
| ENST00000589076.6:c.1498A>G | ENSP00000466934.2:p.Ile500Val | |
| ENST00000589941.2:c.1498A>G | ENSP00000465874.2:p.Ile500Val | |
| ENST00000590061.2:c.1498A>G | ENSP00000464772.2:p.Ile500Val | |
| ENST00000593223.2:c.*1495A>G | ENSP00000466118.2:n.*1495A>G | |
| ENST00000611848.2:c.*150A>G | ENSP00000478613.2:n.*150A>G | |
| ENST00000684953.1:n.3513A>G | ||
| ENST00000685090.1:n.3428A>G | ||
| ENST00000685232.1:n.1719A>G | ||
| ENST00000688574.1:n.1606A>G | ||
| ENST00000691124.1:n.4459A>G | ||
| ENST00000342988.8:c.1498A>G MANE Select | ENSP00000341551.3:p.Ile500Val | |
| ENST00000342988.7:c.1498A>G | ENSP00000341551.3:p.Ile500Val | |
| ENST00000398417.6:c.1498A>G | ENSP00000381452.1:p.Ile500Val | |
| ENST00000586253.1:n.220A>G | ||
| ENST00000588745.5:c.1210A>G | ENSP00000464901.1:p.Ile404Val | |
| ENST00000591126.5:n.3499A>G | ||
| ENST00000592186.5:c.1145A>G | ENSP00000468611.1:n.1145A>G | |
| ENST00000611848.1:c.811A>G | ||
| NM_005359.5:c.1498A>G , LRG_318t1:c.1498A>G | NP_005350.1:p.Ile500Val | |
| NM_005359.6:c.1498A>G MANE Select | NP_005350.1:p.Ile500Val |