Linked Data
ClinVar Variation Id:
379405
dbSNP Id:
rs376300743
ExAC:
16:75579244 T / C
gnomAD v2:
16-75579244-T-C
gnomAD v3:
16-75545346-T-C
gnomAD v4:
16-75545346-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75545346T>C , CM000678.2:g.75545346T>C | GRCh38 |
| NC_000016.9:g.75579244T>C , CM000678.1:g.75579244T>C | GRCh37 |
| NC_000016.8:g.74136745T>C | NCBI36 |
| NG_033109.1:g.15941A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*384+6A>G | ENSP00000510128.1:n.*384+6A>G | |
| ENST00000686547.1:c.*543+6A>G | ENSP00000508790.1:n.*543+6A>G | |
| ENST00000686680.1:c.267+6A>G | ENSP00000508892.1:n.267+6A>G | |
| ENST00000688195.1:c.210+6A>G | ENSP00000510115.1:n.210+6A>G | |
| ENST00000688270.1:c.582+6A>G | ENSP00000509823.1:n.582+6A>G | |
| ENST00000688618.1:c.*384+6A>G | ENSP00000509271.1:n.*384+6A>G | |
| ENST00000689040.1:c.*384+6A>G | ENSP00000508573.1:n.*384+6A>G | |
| ENST00000692097.1:c.*333+6A>G | ENSP00000509668.1:n.*333+6A>G | |
| ENST00000692689.1:c.234+6A>G | ENSP00000509732.1:n.234+6A>G | |
| ENST00000693457.1:c.*384+6A>G | ENSP00000508414.1:n.*384+6A>G | |
| ENST00000693682.1:c.582+6A>G | ENSP00000508670.1:n.582+6A>G | |
| ENST00000258173.11:c.582+6A>G MANE Select | ENSP00000258173.5:n.582+6A>G | |
| ENST00000258173.10:c.582+6A>G | ENSP00000258173.5:n.582+6A>G | |
| ENST00000460606.1:c.77+6A>G | ||
| ENST00000562410.5:c.*384+6A>G | ENSP00000454582.1:n.*384+6A>G | |
| ENST00000564576.1:n.346-2663A>G | ||
| ENST00000565067.5:c.438+480A>G | ENSP00000457254.1:n.438+480A>G | |
| ENST00000568377.5:c.669+6A>G | ENSP00000476267.1:n.669+6A>G | |
| ENST00000569294.1:n.326+6A>G | ||
| ENST00000570006.5:c.544+6A>G | ENSP00000455520.1:n.544+6A>G | |
| NM_001077416.2:c.741+6A>G | NP_001070884.2:n.741+6A>G | |
| NM_001077418.2:c.582+6A>G | NP_001070886.1:n.582+6A>G | |
| NR_074083.1:n.782+6A>G | ||
| NM_001077418.3:c.582+6A>G MANE Select | NP_001070886.1:n.582+6A>G | |
| NR_074083.2:n.748+6A>G |