Linked Data
ClinVar Variation Id:
2163316
ClinVar RCV Id:
RCV003073228
dbSNP Id:
rs144252983
ExAC:
16:75579242 G / A
gnomAD v2:
16-75579242-G-A
gnomAD v3:
16-75545344-G-A
gnomAD v4:
16-75545344-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75545344G>A , CM000678.2:g.75545344G>A | GRCh38 |
| NC_000016.9:g.75579242G>A , CM000678.1:g.75579242G>A | GRCh37 |
| NC_000016.8:g.74136743G>A | NCBI36 |
| NG_033109.1:g.15943C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*384+8C>T | ENSP00000510128.1:n.*384+8C>T | |
| ENST00000686547.1:c.*543+8C>T | ENSP00000508790.1:n.*543+8C>T | |
| ENST00000686680.1:c.267+8C>T | ENSP00000508892.1:n.267+8C>T | |
| ENST00000688195.1:c.210+8C>T | ENSP00000510115.1:n.210+8C>T | |
| ENST00000688270.1:c.582+8C>T | ENSP00000509823.1:n.582+8C>T | |
| ENST00000688618.1:c.*384+8C>T | ENSP00000509271.1:n.*384+8C>T | |
| ENST00000689040.1:c.*384+8C>T | ENSP00000508573.1:n.*384+8C>T | |
| ENST00000692097.1:c.*333+8C>T | ENSP00000509668.1:n.*333+8C>T | |
| ENST00000692689.1:c.234+8C>T | ENSP00000509732.1:n.234+8C>T | |
| ENST00000693457.1:c.*384+8C>T | ENSP00000508414.1:n.*384+8C>T | |
| ENST00000693682.1:c.582+8C>T | ENSP00000508670.1:n.582+8C>T | |
| ENST00000258173.11:c.582+8C>T MANE Select | ENSP00000258173.5:n.582+8C>T | |
| ENST00000258173.10:c.582+8C>T | ENSP00000258173.5:n.582+8C>T | |
| ENST00000460606.1:c.77+8C>T | ||
| ENST00000562410.5:c.*384+8C>T | ENSP00000454582.1:n.*384+8C>T | |
| ENST00000564576.1:n.346-2661C>T | ||
| ENST00000565067.5:c.438+482C>T | ENSP00000457254.1:n.438+482C>T | |
| ENST00000568377.5:c.669+8C>T | ENSP00000476267.1:n.669+8C>T | |
| ENST00000569294.1:n.326+8C>T | ||
| ENST00000570006.5:c.544+8C>T | ENSP00000455520.1:n.544+8C>T | |
| NM_001077416.2:c.741+8C>T | NP_001070884.2:n.741+8C>T | |
| NM_001077418.2:c.582+8C>T | NP_001070886.1:n.582+8C>T | |
| NR_074083.1:n.782+8C>T | ||
| NM_001077418.3:c.582+8C>T MANE Select | NP_001070886.1:n.582+8C>T | |
| NR_074083.2:n.748+8C>T |