Linked Data
ClinVar Variation Id:
290725
dbSNP Id:
rs527655625
ExAC:
11:32421548 G / A
gnomAD v2:
11-32421548-G-A
gnomAD v3:
11-32400002-G-A
gnomAD v4:
11-32400002-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32400002G>A , CM000673.2:g.32400002G>A | GRCh38 |
| NC_000011.9:g.32421548G>A , CM000673.1:g.32421548G>A | GRCh37 |
| NC_000011.8:g.32378124G>A | NCBI36 |
| NG_009272.1:g.40540C>T , LRG_525:g.40540C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.1008C>T | ENSP00000331327.5:p.Ile336= | |
| ENST00000379077.9:c.*243C>T | ENSP00000368368.5:n.*243C>T | |
| ENST00000379079.8:c.408C>T | ENSP00000368370.2:p.Ile136= | |
| ENST00000448076.9:c.1059C>T | ENSP00000413452.5:p.Ile353= | |
| ENST00000452863.10:c.1059C>T MANE Select | ENSP00000415516.5:p.Ile353= | |
| ENST00000526685.2:n.513C>T | ||
| ENST00000639563.3:c.1008C>T | ENSP00000492269.3:p.Ile336= | |
| ENST00000639907.2:n.202C>T | ||
| ENST00000640146.2:c.384C>T | ENSP00000491984.2:p.Ile128= | |
| ENST00000651794.1:n.802C>T | ||
| ENST00000652579.1:n.219C>T | ||
| ENST00000652724.1:n.249C>T | ||
| ENST00000332351.7:c.1044C>T | ENSP00000331327.3:p.Ile348= | |
| ENST00000379077.7:c.*243C>T | ENSP00000368368.3:n.*243C>T | |
| ENST00000379079.6:c.408C>T | ENSP00000368370.2:p.Ile136= | |
| ENST00000448076.7:c.1044C>T | ENSP00000413452.3:p.Ile348= | |
| ENST00000452863.7:c.993C>T | ENSP00000415516.3:p.Ile331= | |
| ENST00000526685.1:c.-130C>T | ENSP00000436292.1:n.-130C>T | |
| ENST00000527775.1:c.297C>T | ENSP00000435351.1:p.Ile99= | |
| ENST00000527882.5:c.115C>T | ||
| ENST00000530998.5:c.357C>T | ENSP00000435307.1:p.Ile119= | |
| NM_000378.4:c.993C>T | NP_000369.3:p.Ile331= | |
| NM_001198551.1:c.408C>T , LRG_525t2:c.408C>T | NP_001185480.1:p.Ile136= | |
| NM_001198552.1:c.357C>T | NP_001185481.1:p.Ile119= | |
| NM_024424.3:c.1044C>T | NP_077742.2:p.Ile348= | |
| NM_024426.4:c.1044C>T | NP_077744.3:p.Ile348= | |
| NM_000378.5:c.1008C>T | NP_000369.4:p.Ile336= | |
| NM_024424.4:c.1059C>T | NP_077742.3:p.Ile353= | |
| NM_024426.5:c.1059C>T | NP_077744.4:p.Ile353= | |
| NM_001367854.1:c.-130C>T | NP_001354783.1:n.-130C>T | |
| NR_160306.1:n.1391C>T | ||
| NM_000378.6:c.1008C>T | NP_000369.4:p.Ile336= | |
| NM_001198552.2:c.357C>T | NP_001185481.1:p.Ile119= | |
| NM_024424.5:c.1059C>T | NP_077742.3:p.Ile353= | |
| NM_024426.6:c.1059C>T MANE Select | NP_077744.4:p.Ile353= |