Linked Data
ClinVar Variation Id:
9471
dbSNP Id:
rs137852618
ExAC:
21:46320315 C / T
gnomAD v2:
21-46320315-C-T
gnomAD v3:
21-44900400-C-T
gnomAD v4:
21-44900400-C-T
COSMIC:
COSM1714087
PubMed:
PMID:9884339
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.44900400C>T , CM000683.2:g.44900400C>T | GRCh38 |
| NC_000021.8:g.46320315C>T , CM000683.1:g.46320315C>T | GRCh37 |
| NC_000021.7:g.45144743C>T | NCBI36 |
| NG_007270.2:g.33439G>A , LRG_76:g.33439G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000302347.10:c.817G>A | ENSP00000303242.6:p.Gly273Arg | |
| ENST00000652462.1:c.817G>A MANE Select | ENSP00000498780.1:p.Gly273Arg | |
| ENST00000302347.9:c.817G>A | ENSP00000303242.5:p.Gly273Arg | |
| ENST00000320216.10:c.790G>A | ENSP00000317697.6:p.Gly264Arg | |
| ENST00000355153.8:c.817G>A | ENSP00000347279.4:p.Gly273Arg | |
| ENST00000397850.6:c.817G>A | ENSP00000380948.2:p.Gly273Arg | |
| ENST00000397852.5:c.817G>A | ENSP00000380950.1:p.Gly273Arg | |
| ENST00000397854.7:c.646G>A | ENSP00000380952.3:p.Gly216Arg | |
| ENST00000397857.5:c.817G>A | ENSP00000380955.1:p.Gly273Arg | |
| ENST00000498666.5:n.960G>A | ||
| ENST00000523323.5:c.*644G>A | ENSP00000427732.1:n.*644G>A | |
| ENST00000610622.4:c.646G>A | ENSP00000480700.1:p.Gly216Arg | |
| NM_000211.4:c.817G>A | NP_000202.3:p.Gly273Arg | |
| NM_001127491.2:c.817G>A | NP_001120963.2:p.Gly273Arg | |
| NM_001303238.1:c.610G>A | NP_001290167.1:p.Gly204Arg | |
| XM_006724001.1:c.610G>A | XP_006724064.1:p.Gly204Arg | |
| XM_006724001.2:c.610G>A | XP_006724064.1:p.Gly204Arg | |
| NM_000211.5:c.817G>A MANE Select | NP_000202.3:p.Gly273Arg | |
| NM_001127491.3:c.817G>A | NP_001120963.2:p.Gly273Arg | |
| NM_001303238.2:c.610G>A | NP_001290167.1:p.Gly204Arg |