Linked Data
ClinVar Variation Id:
248
dbSNP Id:
rs61732609
ExAC:
22:43023680 G / A
gnomAD v2:
22-43023680-G-A
gnomAD v3:
22-42627674-G-A
gnomAD v4:
22-42627674-G-A
PubMed:
PMID:10874300
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.42627674G>A , CM000684.2:g.42627674G>A | GRCh38 |
| NC_000022.10:g.43023680G>A , CM000684.1:g.43023680G>A | GRCh37 |
| NC_000022.9:g.41353624G>A | NCBI36 |
| NG_012194.1:g.26726C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000361740.9:c.610C>T | ENSP00000354468.5:p.Arg204Ter | |
| ENST00000402438.6:c.409C>T | ENSP00000385679.1:p.Arg137Ter | |
| ENST00000407332.6:c.496C>T | ENSP00000384457.2:p.Arg166Ter | |
| ENST00000407623.8:c.409C>T | ENSP00000384834.3:p.Arg137Ter | |
| ENST00000438270.2:c.409C>T | ENSP00000403439.2:p.Arg137Ter | |
| ENST00000617178.5:c.15C>T | ||
| ENST00000684963.1:n.2218C>T | ||
| ENST00000686523.1:c.*427C>T | ENSP00000508940.1:n.*427C>T | |
| ENST00000687183.1:n.539C>T | ||
| ENST00000687198.1:c.409C>T | ENSP00000508492.1:p.Arg137Ter | |
| ENST00000688117.1:c.577C>T | ENSP00000509015.1:p.Arg193Ter | |
| ENST00000688244.1:c.333+3208C>T | ENSP00000510355.1:n.333+3208C>T | |
| ENST00000689001.1:n.885C>T | ||
| ENST00000689195.1:c.464-285C>T | ENSP00000509895.1:n.464-285C>T | |
| ENST00000689239.1:n.645C>T | ||
| ENST00000689795.1:n.640C>T | ||
| ENST00000690835.1:c.478C>T | ENSP00000509038.1:p.Arg160Ter | |
| ENST00000690993.1:n.1018C>T | ||
| ENST00000691295.1:c.348C>T | ENSP00000508706.1:p.Ser116= | |
| ENST00000691918.1:c.457C>T | ENSP00000509525.1:p.Arg153Ter | |
| ENST00000692152.1:c.409C>T | ENSP00000509317.1:p.Arg137Ter | |
| ENST00000692344.1:n.965C>T | ||
| ENST00000693363.1:c.478C>T | ENSP00000510411.1:p.Arg160Ter | |
| ENST00000693367.1:c.478C>T | ENSP00000508815.1:p.Arg160Ter | |
| ENST00000693639.1:c.471C>T | ENSP00000510223.1:p.Ser157= | |
| ENST00000693646.1:c.384C>T | ENSP00000508449.1:p.Ser128= | |
| ENST00000352397.10:c.478C>T MANE Select | ENSP00000338461.6:p.Arg160Ter | |
| ENST00000352397.9:c.478C>T | ENSP00000338461.6:p.Arg160Ter | |
| ENST00000361740.8:c.577C>T | ENSP00000354468.4:p.Arg193Ter | |
| ENST00000402438.5:c.409C>T | ENSP00000385679.1:p.Arg137Ter | |
| ENST00000407332.5:c.409C>T | ENSP00000384457.1:p.Arg137Ter | |
| ENST00000407623.7:c.409C>T | ENSP00000384834.3:p.Arg137Ter | |
| ENST00000438270.1:c.409C>T | ENSP00000403439.1:p.Arg137Ter | |
| ENST00000470741.1:n.2612C>T | ||
| NM_000398.6:c.478C>T | NP_000389.1:p.Arg160Ter | |
| NM_001129819.2:c.409C>T | NP_001123291.1:p.Arg137Ter | |
| NM_001171660.1:c.577C>T | NP_001165131.1:p.Arg193Ter | |
| NM_001171661.1:c.409C>T | NP_001165132.1:p.Arg137Ter | |
| NM_007326.4:c.409C>T | NP_015565.1:p.Arg137Ter | |
| NM_000398.7:c.478C>T MANE Select | NP_000389.1:p.Arg160Ter | |
| NM_001171660.2:c.577C>T | NP_001165131.1:p.Arg193Ter |