Linked Data
ClinVar Variation Id:
2421
ClinVar RCV Id:
RCV000002522
dbSNP Id:
rs28940283
PubMed:
PMID:11474210
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210591893A>G , CM000664.2:g.210591893A>G | GRCh38 |
| NC_000002.11:g.211456617A>G , CM000664.1:g.211456617A>G | GRCh37 |
| NC_000002.10:g.211164862A>G | NCBI36 |
| NG_008285.1:g.119209A>G , LRG_336:g.119209A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.1010A>G MANE Select | ENSP00000233072.5:p.His337Arg | |
| ENST00000430249.7:c.1028A>G | ENSP00000402608.2:p.His343Arg | |
| ENST00000673510.1:c.1010A>G | ENSP00000500537.1:p.His337Arg | |
| ENST00000673630.1:c.1010A>G | ENSP00000501073.1:p.His337Arg | |
| ENST00000673711.1:c.1010A>G | ENSP00000501022.1:p.His337Arg | |
| ENST00000233072.9:c.1010A>G | ENSP00000233072.5:p.His337Arg | |
| ENST00000430249.6:c.1028A>G | ENSP00000402608.2:p.His343Arg | |
| ENST00000619804.1:c.1010A>G | ENSP00000480517.1:p.His337Arg | |
| NM_001122633.2:c.1028A>G | NP_001116105.1:p.His343Arg | |
| NM_001875.4:c.1010A>G , LRG_336t1:c.1010A>G | NP_001866.2:p.His337Arg | |
| XM_011510640.1:c.1043A>G | XP_011508942.1:p.His348Arg | |
| XM_011510641.1:c.1010A>G | XP_011508943.1:p.His337Arg | |
| XM_011510642.1:c.1010A>G | XP_011508944.1:p.His337Arg | |
| XM_011510643.1:c.1010A>G | XP_011508945.1:p.His337Arg | |
| XM_011510644.1:c.1010A>G | XP_011508946.1:p.His337Arg | |
| NM_001122633.3:c.1010A>G | NP_001116105.2:p.His337Arg | |
| NM_001369256.1:c.1043A>G | NP_001356185.1:p.His348Arg | |
| NM_001369257.1:c.1010A>G | NP_001356186.1:p.His337Arg | |
| NM_001875.5:c.1010A>G MANE Select | NP_001866.2:p.His337Arg | |
| NR_161225.1:n.1922A>G |