Linked Data
ClinVar Variation Id:
16656
dbSNP Id:
rs149977726
ExAC:
22:50965694 T / C
gnomAD v2:
22-50965694-T-C
gnomAD v3:
22-50527265-T-C
gnomAD v4:
22-50527265-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50527265T>C , CM000684.2:g.50527265T>C | GRCh38 |
| NC_000022.10:g.50965694T>C , CM000684.1:g.50965694T>C | GRCh37 |
| NC_000022.9:g.49312560T>C | NCBI36 |
| NG_011860.1:g.7821A>G , LRG_727:g.7821A>G | |
| NG_016235.1:g.4175A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.665A>G MANE Select | ENSP00000252029.3:p.Lys222Arg | |
| ENST00000395680.6:c.665A>G | ENSP00000379037.1:p.Lys222Arg | |
| ENST00000395681.6:c.665A>G | ENSP00000379038.1:p.Lys222Arg | |
| ENST00000650719.1:c.646+323A>G | ENSP00000498276.1:n.646+323A>G | |
| ENST00000651401.1:c.149A>G | ENSP00000499115.1:p.Lys50Arg | |
| ENST00000651906.1:n.1088A>G | ||
| ENST00000652352.1:c.376A>G | ENSP00000498579.1:n.376A>G | |
| ENST00000652401.1:c.166A>G | ||
| ENST00000252029.7:c.665A>G | ENSP00000252029.3:p.Lys222Arg | |
| ENST00000395678.7:c.665A>G | ENSP00000379036.3:p.Lys222Arg | |
| ENST00000395680.5:c.665A>G | ENSP00000379037.1:p.Lys222Arg | |
| ENST00000395681.5:c.665A>G | ENSP00000379038.1:p.Lys222Arg | |
| ENST00000425169.1:c.566A>G | ENSP00000395875.1:p.Lys189Arg | |
| ENST00000476284.1:n.771+323A>G | ||
| ENST00000487577.5:n.952A>G | ||
| NM_001113755.2:c.665A>G | NP_001107227.1:p.Lys222Arg | |
| NM_001113756.2:c.665A>G | NP_001107228.1:p.Lys222Arg | |
| NM_001257988.1:c.665A>G , LRG_727t1:c.665A>G | NP_001244917.1:p.Lys222Arg | |
| NM_001257989.1:c.665A>G , LRG_727t2:c.665A>G | NP_001244918.1:p.Lys222Arg | |
| NM_001953.4:c.665A>G | NP_001944.1:p.Lys222Arg | |
| NM_001113755.3:c.665A>G | NP_001107227.1:p.Lys222Arg | |
| NM_001113756.3:c.665A>G | NP_001107228.1:p.Lys222Arg | |
| NM_001953.5:c.665A>G MANE Select | NP_001944.1:p.Lys222Arg |