Linked Data
ClinVar Variation Id:
304416
dbSNP Id:
rs5030315
gnomAD v2:
11-32410516-T-C
gnomAD v3:
11-32388970-T-C
gnomAD v4:
11-32388970-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388970T>C , CM000673.2:g.32388970T>C | GRCh38 |
| NC_000011.9:g.32410516T>C , CM000673.1:g.32410516T>C | GRCh37 |
| NC_000011.8:g.32367092T>C | NCBI36 |
| NG_009272.1:g.51572A>G , LRG_525:g.51572A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000332351.9:c.*88A>G | ENSP00000331327.5:n.*88A>G | |
| ENST00000379077.9:c.*841A>G | ENSP00000368368.5:n.*841A>G | |
| ENST00000379079.8:c.*88A>G | ENSP00000368370.2:n.*88A>G | |
| ENST00000448076.9:c.*88A>G | ENSP00000413452.5:n.*88A>G | |
| ENST00000452863.10:c.*88A>G MANE Select | ENSP00000415516.5:n.*88A>G | |
| ENST00000639907.2:n.791A>G | ||
| ENST00000640146.2:c.*88A>G | ENSP00000491984.2:n.*88A>G | |
| ENST00000650745.1:n.1467A>G | ||
| ENST00000650861.1:n.2229A>G | ||
| ENST00000651459.1:c.428A>G | ||
| ENST00000651533.1:n.694A>G | ||
| ENST00000651668.1:n.594A>G | ||
| ENST00000651794.1:n.1500A>G | ||
| ENST00000651819.1:n.582A>G | ||
| ENST00000652579.1:n.917A>G | ||
| ENST00000652724.1:n.847A>G | ||
| ENST00000332351.7:c.*88A>G | ENSP00000331327.3:n.*88A>G | |
| ENST00000379077.7:c.*841A>G | ENSP00000368368.3:n.*841A>G | |
| ENST00000379079.6:c.*88A>G | ENSP00000368370.2:n.*88A>G | |
| ENST00000448076.7:c.*88A>G | ENSP00000413452.3:n.*88A>G | |
| ENST00000452863.7:c.1582A>G | ENSP00000415516.3:n.1582A>G | |
| ENST00000530998.5:c.*88A>G | ENSP00000435307.1:n.*88A>G | |
| NM_000378.4:c.*88A>G | NP_000369.3:n.*88A>G | |
| NM_001198551.1:c.*88A>G , LRG_525t2:c.*88A>G | NP_001185480.1:n.*88A>G | |
| NM_001198552.1:c.*88A>G | NP_001185481.1:n.*88A>G | |
| NM_024424.3:c.*88A>G | NP_077742.2:n.*88A>G | |
| NM_024426.4:c.*88A>G | NP_077744.3:n.*88A>G | |
| NM_000378.5:c.*88A>G | NP_000369.4:n.*88A>G | |
| NM_024424.4:c.*88A>G | NP_077742.3:n.*88A>G | |
| NM_024426.5:c.*88A>G | NP_077744.4:n.*88A>G | |
| NM_001367854.1:c.*88A>G | NP_001354783.1:n.*88A>G | |
| NR_160306.1:n.1989A>G | ||
| NM_000378.6:c.*88A>G | NP_000369.4:n.*88A>G | |
| NM_001198552.2:c.*88A>G | NP_001185481.1:n.*88A>G | |
| NM_024424.5:c.*88A>G | NP_077742.3:n.*88A>G | |
| NM_024426.6:c.*88A>G MANE Select | NP_077744.4:n.*88A>G |