Linked Data
ClinVar Variation Id:
39821
dbSNP Id:
rs397514609
ExAC:
16:75590096 A / T
gnomAD v2:
16-75590096-A-T
gnomAD v3:
16-75556198-A-T
gnomAD v4:
16-75556198-A-T
PubMed:
PMID:23012439
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.75556198A>T , CM000678.2:g.75556198A>T | GRCh38 |
| NC_000016.9:g.75590096A>T , CM000678.1:g.75590096A>T | GRCh37 |
| NC_000016.8:g.74147597A>T | NCBI36 |
| NG_033109.1:g.5089T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000685935.1:c.12T>A | ENSP00000510128.1:p.Tyr4Ter | |
| ENST00000686547.1:c.12T>A | ENSP00000508790.1:p.Tyr4Ter | |
| ENST00000688270.1:c.12T>A | ENSP00000509823.1:p.Tyr4Ter | |
| ENST00000688618.1:c.12T>A | ENSP00000509271.1:p.Tyr4Ter | |
| ENST00000689040.1:c.12T>A | ENSP00000508573.1:p.Tyr4Ter | |
| ENST00000692097.1:c.12T>A | ENSP00000509668.1:p.Tyr4Ter | |
| ENST00000692215.1:n.55T>A | ||
| ENST00000693457.1:c.12T>A | ENSP00000508414.1:p.Tyr4Ter | |
| ENST00000693682.1:c.12T>A | ENSP00000508670.1:p.Tyr4Ter | |
| ENST00000258173.11:c.12T>A MANE Select | ENSP00000258173.5:p.Tyr4Ter | |
| ENST00000258173.10:c.12T>A | ENSP00000258173.5:p.Tyr4Ter | |
| ENST00000561809.1:n.65T>A | ||
| ENST00000562410.5:c.12T>A | ENSP00000454582.1:p.Tyr4Ter | |
| ENST00000564576.1:n.48T>A | ||
| ENST00000565067.5:c.12T>A | ENSP00000457254.1:p.Tyr4Ter | |
| ENST00000568377.5:c.2T>A | ENSP00000476267.1:p.Met1Lys | |
| ENST00000570006.5:c.12T>A | ENSP00000455520.1:p.Tyr4Ter | |
| NM_001077416.2:c.74T>A | NP_001070884.2:p.Met25Lys | |
| NM_001077418.2:c.12T>A | NP_001070886.1:p.Tyr4Ter | |
| NR_074083.1:n.89T>A | ||
| NM_001077418.3:c.12T>A MANE Select | NP_001070886.1:p.Tyr4Ter | |
| NR_074083.2:n.55T>A |