Linked Data
ClinVar Variation Id:
304413
dbSNP Id:
rs746218880
gnomAD v3:
11-32388899-C-G
gnomAD v4:
11-32388899-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.32388899C>G , CM000673.2:g.32388899C>G | GRCh38 |
| NC_000011.9:g.32410445C>G , CM000673.1:g.32410445C>G | GRCh37 |
| NC_000011.8:g.32367021C>G | NCBI36 |
| NG_009272.1:g.51643G>C , LRG_525:g.51643G>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000332351.9:c.*159G>C | ENSP00000331327.5:n.*159G>C | |
| ENST00000379077.9:c.*912G>C | ENSP00000368368.5:n.*912G>C | |
| ENST00000379079.8:c.*159G>C | ENSP00000368370.2:n.*159G>C | |
| ENST00000448076.9:c.*159G>C | ENSP00000413452.5:n.*159G>C | |
| ENST00000452863.10:c.*159G>C MANE Select | ENSP00000415516.5:n.*159G>C | |
| ENST00000639907.2:n.862G>C | ||
| ENST00000640146.2:c.*159G>C | ENSP00000491984.2:n.*159G>C | |
| ENST00000650745.1:n.1538G>C | ||
| ENST00000650861.1:n.2300G>C | ||
| ENST00000651459.1:c.499G>C | ||
| ENST00000651533.1:n.765G>C | ||
| ENST00000651668.1:n.665G>C | ||
| ENST00000651794.1:n.1571G>C | ||
| ENST00000651819.1:n.653G>C | ||
| ENST00000652579.1:n.988G>C | ||
| ENST00000652724.1:n.918G>C | ||
| ENST00000332351.7:c.*159G>C | ENSP00000331327.3:n.*159G>C | |
| ENST00000379077.7:c.*912G>C | ENSP00000368368.3:n.*912G>C | |
| ENST00000379079.6:c.*159G>C | ENSP00000368370.2:n.*159G>C | |
| ENST00000448076.7:c.*159G>C | ENSP00000413452.3:n.*159G>C | |
| ENST00000452863.7:c.1653G>C | ENSP00000415516.3:n.1653G>C | |
| ENST00000530998.5:c.*159G>C | ENSP00000435307.1:n.*159G>C | |
| NM_000378.4:c.*159G>C | NP_000369.3:n.*159G>C | |
| NM_001198551.1:c.*159G>C , LRG_525t2:c.*159G>C | NP_001185480.1:n.*159G>C | |
| NM_001198552.1:c.*159G>C | NP_001185481.1:n.*159G>C | |
| NM_024424.3:c.*159G>C | NP_077742.2:n.*159G>C | |
| NM_024426.4:c.*159G>C | NP_077744.3:n.*159G>C | |
| NM_000378.5:c.*159G>C | NP_000369.4:n.*159G>C | |
| NM_024424.4:c.*159G>C | NP_077742.3:n.*159G>C | |
| NM_024426.5:c.*159G>C | NP_077744.4:n.*159G>C | |
| NM_001367854.1:c.*159G>C | NP_001354783.1:n.*159G>C | |
| NR_160306.1:n.2060G>C | ||
| NM_000378.6:c.*159G>C | NP_000369.4:n.*159G>C | |
| NM_001198552.2:c.*159G>C | NP_001185481.1:n.*159G>C | |
| NM_024424.5:c.*159G>C | NP_077742.3:n.*159G>C | |
| NM_024426.6:c.*159G>C MANE Select | NP_077744.4:n.*159G>C |