Linked Data
ClinVar Variation Id:
64619
dbSNP Id:
rs397514753
ExAC:
16:75576500 C / T
gnomAD v2:
16-75576500-C-T
gnomAD v3:
16-75542602-C-T
gnomAD v4:
16-75542602-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75542602C>T , CM000678.2:g.75542602C>T | GRCh38 |
| NC_000016.9:g.75576500C>T , CM000678.1:g.75576500C>T | GRCh37 |
| NC_000016.8:g.74134001C>T | NCBI36 |
| NG_033109.1:g.18685G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*466G>A | ENSP00000510128.1:n.*466G>A | |
| ENST00000686547.1:c.*625G>A | ENSP00000508790.1:n.*625G>A | |
| ENST00000686680.1:c.349G>A | ENSP00000508892.1:p.Val117Ile | |
| ENST00000688195.1:c.292G>A | ENSP00000510115.1:p.Val98Ile | |
| ENST00000688270.1:c.664G>A | ENSP00000509823.1:p.Gly222Ser | |
| ENST00000688618.1:c.*466G>A | ENSP00000509271.1:n.*466G>A | |
| ENST00000689040.1:c.*762G>A | ENSP00000508573.1:n.*762G>A | |
| ENST00000692097.1:c.*415G>A | ENSP00000509668.1:n.*415G>A | |
| ENST00000692689.1:c.316G>A | ENSP00000509732.1:p.Val106Ile | |
| ENST00000693457.1:c.*466G>A | ENSP00000508414.1:n.*466G>A | |
| ENST00000693682.1:c.664G>A | ENSP00000508670.1:p.Gly222Ser | |
| ENST00000258173.11:c.664G>A MANE Select | ENSP00000258173.5:p.Val222Ile | |
| ENST00000258173.10:c.664G>A | ENSP00000258173.5:p.Val222Ile | |
| ENST00000460606.1:c.159G>A | ||
| ENST00000562410.5:c.*466G>A | ENSP00000454582.1:n.*466G>A | |
| ENST00000564576.1:n.427G>A | ||
| ENST00000565067.5:c.520G>A | ENSP00000457254.1:p.Val174Ile | |
| ENST00000568377.5:c.751G>A | ENSP00000476267.1:p.Val251Ile | |
| ENST00000569294.1:n.408G>A | ||
| ENST00000570006.5:c.*44G>A | ENSP00000455520.1:n.*44G>A | |
| NM_001077416.2:c.823G>A | NP_001070884.2:p.Val275Ile | |
| NM_001077418.2:c.664G>A | NP_001070886.1:p.Val222Ile | |
| NR_074083.1:n.864G>A | ||
| NM_001077418.3:c.664G>A MANE Select | NP_001070886.1:p.Val222Ile | |
| NR_074083.2:n.830G>A |