Linked Data
ClinVar Variation Id:
237105
ClinVar RCV Id:
RCV000252306
RCV000265635
RCV000326369
RCV000348393
RCV000246115
RCV000384555
RCV000295843
RCV000387961
RCV001088054
RCV001709518
dbSNP Id:
rs113721547
ExAC:
15:48826356 A / G
gnomAD v2:
15-48826356-A-G
gnomAD v3:
15-48534159-A-G
gnomAD v4:
15-48534159-A-G
PubMed:
PMID:26787436
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000015.10:g.48534159A>G , CM000677.2:g.48534159A>G | GRCh38 |
| NC_000015.9:g.48826356A>G , CM000677.1:g.48826356A>G | GRCh37 |
| NC_000015.8:g.46613648A>G | NCBI36 |
| NG_008805.2:g.116630T>C , LRG_778:g.116630T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000559133.6:c.783T>C | ENSP00000453958.2:p.Asn261= | |
| ENST00000674301.2:c.783T>C | ENSP00000501333.2:p.Asn261= | |
| ENST00000316623.10:c.783T>C MANE Select | ENSP00000325527.5:p.Asn261= | |
| ENST00000316623.9:c.783T>C | ENSP00000325527.5:p.Asn261= | |
| ENST00000537463.6:c.636+3552T>C | ENSP00000440294.2:n.636+3552T>C | |
| NM_000138.4:c.783T>C , LRG_778t1:c.783T>C | NP_000129.3:p.Asn261= | |
| NM_000138.5:c.783T>C MANE Select | NP_000129.3:p.Asn261= |