Linked Data
ClinVar Variation Id:
304411
dbSNP Id:
rs886048226
gnomAD v2:
11-32410365-C-T
gnomAD v3:
11-32388819-C-T
gnomAD v4:
11-32388819-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388819C>T , CM000673.2:g.32388819C>T | GRCh38 |
| NC_000011.9:g.32410365C>T , CM000673.1:g.32410365C>T | GRCh37 |
| NC_000011.8:g.32366941C>T | NCBI36 |
| NG_009272.1:g.51723G>A , LRG_525:g.51723G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.*239G>A | ENSP00000331327.5:n.*239G>A | |
| ENST00000379077.9:c.*992G>A | ENSP00000368368.5:n.*992G>A | |
| ENST00000379079.8:c.*239G>A | ENSP00000368370.2:n.*239G>A | |
| ENST00000448076.9:c.*239G>A | ENSP00000413452.5:n.*239G>A | |
| ENST00000452863.10:c.*239G>A MANE Select | ENSP00000415516.5:n.*239G>A | |
| ENST00000639907.2:n.942G>A | ||
| ENST00000640146.2:c.*239G>A | ENSP00000491984.2:n.*239G>A | |
| ENST00000650745.1:n.1618G>A | ||
| ENST00000650861.1:n.2380G>A | ||
| ENST00000651459.1:c.579G>A | ||
| ENST00000651533.1:n.845G>A | ||
| ENST00000651668.1:n.745G>A | ||
| ENST00000651794.1:n.1651G>A | ||
| ENST00000651819.1:n.733G>A | ||
| ENST00000652579.1:n.1068G>A | ||
| ENST00000652724.1:n.998G>A | ||
| ENST00000332351.7:c.*239G>A | ENSP00000331327.3:n.*239G>A | |
| ENST00000379077.7:c.*992G>A | ENSP00000368368.3:n.*992G>A | |
| ENST00000379079.6:c.*239G>A | ENSP00000368370.2:n.*239G>A | |
| ENST00000448076.7:c.*239G>A | ENSP00000413452.3:n.*239G>A | |
| ENST00000452863.7:c.1733G>A | ENSP00000415516.3:n.1733G>A | |
| ENST00000530998.5:c.*239G>A | ENSP00000435307.1:n.*239G>A | |
| NM_000378.4:c.*239G>A | NP_000369.3:n.*239G>A | |
| NM_001198551.1:c.*239G>A , LRG_525t2:c.*239G>A | NP_001185480.1:n.*239G>A | |
| NM_001198552.1:c.*239G>A | NP_001185481.1:n.*239G>A | |
| NM_024424.3:c.*239G>A | NP_077742.2:n.*239G>A | |
| NM_024426.4:c.*239G>A | NP_077744.3:n.*239G>A | |
| NM_000378.5:c.*239G>A | NP_000369.4:n.*239G>A | |
| NM_024424.4:c.*239G>A | NP_077742.3:n.*239G>A | |
| NM_024426.5:c.*239G>A | NP_077744.4:n.*239G>A | |
| NM_001367854.1:c.*239G>A | NP_001354783.1:n.*239G>A | |
| NR_160306.1:n.2140G>A | ||
| NM_000378.6:c.*239G>A | NP_000369.4:n.*239G>A | |
| NM_001198552.2:c.*239G>A | NP_001185481.1:n.*239G>A | |
| NM_024424.5:c.*239G>A | NP_077742.3:n.*239G>A | |
| NM_024426.6:c.*239G>A MANE Select | NP_077744.4:n.*239G>A |