Linked Data
ClinVar Variation Id:
16662
ClinVar RCV Id:
RCV001276279
dbSNP Id:
rs767245071
ExAC:
22:50967768 C / G
gnomAD v2:
22-50967768-C-G
gnomAD v3:
22-50529339-C-G
gnomAD v4:
22-50529339-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50529339C>G , CM000684.2:g.50529339C>G | GRCh38 |
| NC_000022.10:g.50967768C>G , CM000684.1:g.50967768C>G | GRCh37 |
| NC_000022.9:g.49314634C>G | NCBI36 |
| NG_011860.1:g.5747G>C , LRG_727:g.5747G>C | |
| NG_016235.1:g.2101G>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.215-1G>C MANE Select | ENSP00000252029.3:n.215-1G>C | |
| ENST00000395680.6:c.215-1G>C | ENSP00000379037.1:n.215-1G>C | |
| ENST00000395681.6:c.215-1G>C | ENSP00000379038.1:n.215-1G>C | |
| ENST00000650719.1:c.215-1G>C | ENSP00000498276.1:n.215-1G>C | |
| ENST00000651095.1:n.354-1G>C | ||
| ENST00000651196.1:c.215-1G>C | ENSP00000499096.1:n.215-1G>C | |
| ENST00000651401.1:c.-1+565G>C | ENSP00000499115.1:n.-1+565G>C | |
| ENST00000651906.1:n.334-1G>C | ||
| ENST00000652237.1:n.490G>C | ||
| ENST00000252029.7:c.215-1G>C | ENSP00000252029.3:n.215-1G>C | |
| ENST00000395678.7:c.215-1G>C | ENSP00000379036.3:n.215-1G>C | |
| ENST00000395680.5:c.215-1G>C | ENSP00000379037.1:n.215-1G>C | |
| ENST00000395681.5:c.215-1G>C | ENSP00000379038.1:n.215-1G>C | |
| ENST00000425169.1:c.215-1G>C | ENSP00000395875.1:n.215-1G>C | |
| ENST00000476284.1:n.340-1G>C | ||
| ENST00000487162.1:n.502G>C | ||
| ENST00000487577.5:n.502-1G>C | ||
| NM_001113755.2:c.215-1G>C | NP_001107227.1:n.215-1G>C | |
| NM_001113756.2:c.215-1G>C | NP_001107228.1:n.215-1G>C | |
| NM_001257988.1:c.215-1G>C , LRG_727t1:c.215-1G>C | NP_001244917.1:n.215-1G>C | |
| NM_001257989.1:c.215-1G>C , LRG_727t2:c.215-1G>C | NP_001244918.1:n.215-1G>C | |
| NM_001953.4:c.215-1G>C | NP_001944.1:n.215-1G>C | |
| NM_001113755.3:c.215-1G>C | NP_001107227.1:n.215-1G>C | |
| NM_001113756.3:c.215-1G>C | NP_001107228.1:n.215-1G>C | |
| NM_001953.5:c.215-1G>C MANE Select | NP_001944.1:n.215-1G>C |