Linked Data
ClinVar Variation Id:
305360
dbSNP Id:
rs753880827
ExAC:
11:65487511 C / G
gnomAD v2:
11-65487511-C-G
gnomAD v3:
11-65720040-C-G
gnomAD v4:
11-65720040-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.65720040C>G , CM000673.2:g.65720040C>G | GRCh38 |
| NC_000011.9:g.65487511C>G , CM000673.1:g.65487511C>G | GRCh37 |
| NC_000011.8:g.65244087C>G | NCBI36 |
| NG_008976.2:g.5899G>C , LRG_280:g.5899G>C | |
| NG_033057.1:g.13039C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000308418.10:c.468+5G>C MANE Select | ENSP00000308193.5:n.468+5G>C | |
| ENST00000528220.2:n.697+5G>C | ||
| ENST00000531596.6:c.468+5G>C | ENSP00000435717.2:n.468+5G>C | |
| ENST00000534482.6:c.468+5G>C | ENSP00000432081.2:n.468+5G>C | |
| ENST00000642430.1:n.361+5G>C | ||
| ENST00000643214.1:n.542+5G>C | ||
| ENST00000644142.1:c.468+5G>C | ENSP00000493695.1:n.468+5G>C | |
| ENST00000644198.1:n.365+5G>C | ||
| ENST00000646597.1:n.405+5G>C | ||
| ENST00000308418.8:c.468+5G>C | ENSP00000308193.4:n.468+5G>C | |
| ENST00000527610.1:c.473G>C | ENSP00000432897.1:p.Ser158Thr | |
| ENST00000528220.1:c.219+5G>C | ENSP00000431555.1:n.219+5G>C | |
| ENST00000531596.5:c.449+5G>C | ||
| ENST00000533698.5:c.347+5G>C | ||
| ENST00000534482.5:c.362+5G>C | ||
| NM_032193.3:c.468+5G>C , LRG_280t1:c.468+5G>C | NP_115569.2:n.468+5G>C | |
| NM_032193.4:c.468+5G>C MANE Select | NP_115569.2:n.468+5G>C |