Linked Data
ClinVar Variation Id:
39822
dbSNP Id:
rs200799769
ExAC:
16:75576539 C / T
gnomAD v2:
16-75576539-C-T
gnomAD v3:
16-75542641-C-T
gnomAD v4:
16-75542641-C-T
PubMed:
PMID:23012439
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75542641C>T , CM000678.2:g.75542641C>T | GRCh38 |
| NC_000016.9:g.75576539C>T , CM000678.1:g.75576539C>T | GRCh37 |
| NC_000016.8:g.74134040C>T | NCBI36 |
| NG_033109.1:g.18646G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.*427G>A | ENSP00000510128.1:n.*427G>A | |
| ENST00000686547.1:c.*586G>A | ENSP00000508790.1:n.*586G>A | |
| ENST00000686680.1:c.310G>A | ENSP00000508892.1:p.Asp104Asn | |
| ENST00000688195.1:c.253G>A | ENSP00000510115.1:p.Asp85Asn | |
| ENST00000688270.1:c.625G>A | ENSP00000509823.1:p.Asp209Asn | |
| ENST00000688618.1:c.*427G>A | ENSP00000509271.1:n.*427G>A | |
| ENST00000689040.1:c.*723G>A | ENSP00000508573.1:n.*723G>A | |
| ENST00000692097.1:c.*376G>A | ENSP00000509668.1:n.*376G>A | |
| ENST00000692689.1:c.277G>A | ENSP00000509732.1:p.Asp93Asn | |
| ENST00000693457.1:c.*427G>A | ENSP00000508414.1:n.*427G>A | |
| ENST00000693682.1:c.625G>A | ENSP00000508670.1:p.Asp209Asn | |
| ENST00000258173.11:c.625G>A MANE Select | ENSP00000258173.5:p.Asp209Asn | |
| ENST00000258173.10:c.625G>A | ENSP00000258173.5:p.Asp209Asn | |
| ENST00000460606.1:c.120G>A | ||
| ENST00000562410.5:c.*427G>A | ENSP00000454582.1:n.*427G>A | |
| ENST00000564576.1:n.388G>A | ||
| ENST00000565067.5:c.481G>A | ENSP00000457254.1:p.Asp161Asn | |
| ENST00000568377.5:c.712G>A | ENSP00000476267.1:p.Asp238Asn | |
| ENST00000569294.1:n.369G>A | ||
| ENST00000570006.5:c.*5G>A | ENSP00000455520.1:n.*5G>A | |
| NM_001077416.2:c.784G>A | NP_001070884.2:p.Asp262Asn | |
| NM_001077418.2:c.625G>A | NP_001070886.1:p.Asp209Asn | |
| NR_074083.1:n.825G>A | ||
| NM_001077418.3:c.625G>A MANE Select | NP_001070886.1:p.Asp209Asn | |
| NR_074083.2:n.791G>A |