Linked Data
ClinVar Variation Id:
6781
dbSNP Id:
rs121909764
ExAC:
11:71150026 C / T
gnomAD v2:
11-71150026-C-T
gnomAD v3:
11-71438980-C-T
gnomAD v4:
11-71438980-C-T
PubMed:
PMID:9683613
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.71438980C>T , CM000673.2:g.71438980C>T | GRCh38 |
| NC_000011.9:g.71150026C>T , CM000673.1:g.71150026C>T | GRCh37 |
| NC_000011.8:g.70827674C>T | NCBI36 |
| NG_012655.2:g.14452G>A , LRG_340:g.14452G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000525346.6:c.730G>A | ENSP00000435707.3:p.Gly244Arg | |
| ENST00000526780.6:c.730G>A | ENSP00000435668.2:p.Gly244Arg | |
| ENST00000527316.6:c.556G>A | ENSP00000435047.2:p.Gly186Arg | |
| ENST00000682708.1:c.781G>A | ENSP00000506866.1:p.Gly261Arg | |
| ENST00000682880.1:c.730G>A | ENSP00000507520.1:p.Gly244Arg | |
| ENST00000683287.1:c.766G>A | ENSP00000507607.1:p.Gly256Arg | |
| ENST00000683714.1:c.730G>A | ENSP00000508207.1:p.Gly244Arg | |
| ENST00000684396.1:n.770G>A | ||
| ENST00000685320.1:c.145G>A | ENSP00000509319.1:p.Gly49Arg | |
| ENST00000690257.1:c.634G>A | ENSP00000510750.1:p.Gly212Arg | |
| ENST00000355527.8:c.730G>A MANE Select | ENSP00000347717.4:p.Gly244Arg | |
| ENST00000355527.7:c.730G>A | ENSP00000347717.3:p.Gly244Arg | |
| ENST00000407721.6:c.730G>A | ENSP00000384739.2:p.Gly244Arg | |
| ENST00000525137.1:c.97G>A | ENSP00000435956.1:p.Gly33Arg | |
| ENST00000527316.5:c.634G>A | ENSP00000435047.1:p.Gly212Arg | |
| ENST00000534701.1:n.225G>A | ||
| ENST00000534795.5:c.86G>A | ||
| NM_001163817.1:c.730G>A | NP_001157289.1:p.Gly244Arg | |
| NM_001360.2:c.730G>A , LRG_340t1:c.730G>A | NP_001351.2:p.Gly244Arg | |
| XM_011544777.1:c.730G>A | XP_011543079.1:p.Gly244Arg | |
| XM_011544777.2:c.730G>A | XP_011543079.1:p.Gly244Arg | |
| NM_001163817.2:c.730G>A | NP_001157289.1:p.Gly244Arg | |
| NM_001360.3:c.730G>A MANE Select | NP_001351.2:p.Gly244Arg |