Linked Data
ClinVar Variation Id:
1591183
ClinVar RCV Id:
RCV002107598
dbSNP Id:
rs759952065
ExAC:
11:65487502 C / T
gnomAD v2:
11-65487502-C-T
gnomAD v3:
11-65720031-C-T
gnomAD v4:
11-65720031-C-T
MyVariant Identifiers:
chr11:g.65487502C>T (hg19)
chr11:g.65487502_65487504delinsTCT (hg19)
chr11:g.65720031C>T (hg38)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720031C>T , CM000673.2:g.65720031C>T | GRCh38 |
| NC_000011.9:g.65487502C>T , CM000673.1:g.65487502C>T | GRCh37 |
| NC_000011.8:g.65244078C>T | NCBI36 |
| NG_008976.2:g.5908G>A , LRG_280:g.5908G>A | |
| NG_033057.1:g.13030C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.468+14G>A MANE Select | ENSP00000308193.5:n.468+14G>A | |
| ENST00000528220.2:n.697+14G>A | ||
| ENST00000531596.6:c.468+14G>A | ENSP00000435717.2:n.468+14G>A | |
| ENST00000534482.6:c.468+14G>A | ENSP00000432081.2:n.468+14G>A | |
| ENST00000642430.1:n.361+14G>A | ||
| ENST00000643214.1:n.542+14G>A | ||
| ENST00000644142.1:c.468+14G>A | ENSP00000493695.1:n.468+14G>A | |
| ENST00000644198.1:n.365+14G>A | ||
| ENST00000646597.1:n.405+14G>A | ||
| ENST00000308418.8:c.468+14G>A | ENSP00000308193.4:n.468+14G>A | |
| ENST00000527610.1:c.482G>A | ENSP00000432897.1:p.Gly161Glu | |
| ENST00000528220.1:c.219+14G>A | ENSP00000431555.1:n.219+14G>A | |
| ENST00000531596.5:c.449+14G>A | ||
| ENST00000533698.5:c.347+14G>A | ||
| ENST00000534482.5:c.362+14G>A | ||
| NM_032193.3:c.468+14G>A , LRG_280t1:c.468+14G>A | NP_115569.2:n.468+14G>A | |
| NM_032193.4:c.468+14G>A MANE Select | NP_115569.2:n.468+14G>A |