Linked Data
ClinVar Variation Id:
16660
dbSNP Id:
rs121913038
ExAC:
22:50967000 C / T
gnomAD v2:
22-50967000-C-T
gnomAD v3:
22-50528571-C-T
gnomAD v4:
22-50528571-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.50528571C>T , CM000684.2:g.50528571C>T | GRCh38 |
| NC_000022.10:g.50967000C>T , CM000684.1:g.50967000C>T | GRCh37 |
| NC_000022.9:g.49313866C>T | NCBI36 |
| NG_011860.1:g.6515G>A , LRG_727:g.6515G>A | |
| NG_016235.1:g.2869G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252029.8:c.457G>A MANE Select | ENSP00000252029.3:p.Gly153Ser | |
| ENST00000395680.6:c.457G>A | ENSP00000379037.1:p.Gly153Ser | |
| ENST00000395681.6:c.457G>A | ENSP00000379038.1:p.Gly153Ser | |
| ENST00000650719.1:c.457G>A | ENSP00000498276.1:p.Gly153Ser | |
| ENST00000651401.1:c.1-854G>A | ENSP00000499115.1:n.1-854G>A | |
| ENST00000651906.1:n.576G>A | ||
| ENST00000652352.1:c.168G>A | ENSP00000498579.1:p.Glu56= | |
| ENST00000252029.7:c.457G>A | ENSP00000252029.3:p.Gly153Ser | |
| ENST00000395678.7:c.457G>A | ENSP00000379036.3:p.Gly153Ser | |
| ENST00000395680.5:c.457G>A | ENSP00000379037.1:p.Gly153Ser | |
| ENST00000395681.5:c.457G>A | ENSP00000379038.1:p.Gly153Ser | |
| ENST00000425169.1:c.417+565G>A | ENSP00000395875.1:n.417+565G>A | |
| ENST00000476284.1:n.582G>A | ||
| ENST00000487162.1:n.1270G>A | ||
| ENST00000487577.5:n.744G>A | ||
| NM_001113755.2:c.457G>A | NP_001107227.1:p.Gly153Ser | |
| NM_001113756.2:c.457G>A | NP_001107228.1:p.Gly153Ser | |
| NM_001257988.1:c.457G>A , LRG_727t1:c.457G>A | NP_001244917.1:p.Gly153Ser | |
| NM_001257989.1:c.457G>A , LRG_727t2:c.457G>A | NP_001244918.1:p.Gly153Ser | |
| NM_001953.4:c.457G>A | NP_001944.1:p.Gly153Ser | |
| NM_001113755.3:c.457G>A | NP_001107227.1:p.Gly153Ser | |
| NM_001113756.3:c.457G>A | NP_001107228.1:p.Gly153Ser | |
| NM_001953.5:c.457G>A MANE Select | NP_001944.1:p.Gly153Ser |