Linked Data
ClinVar Variation Id:
372747
ClinVar RCV Id:
RCV003470360
dbSNP Id:
rs758724746
ExAC:
2:211473231 G / A
gnomAD v2:
2-211473231-G-A
gnomAD v3:
2-210608507-G-A
gnomAD v4:
2-210608507-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.210608507G>A , CM000664.2:g.210608507G>A | GRCh38 |
| NC_000002.11:g.211473231G>A , CM000664.1:g.211473231G>A | GRCh37 |
| NC_000002.10:g.211181476G>A | NCBI36 |
| NG_008285.1:g.135823G>A , LRG_336:g.135823G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000233072.10:c.2339G>A MANE Select | ENSP00000233072.5:p.Arg780His | |
| ENST00000430249.7:c.2357G>A | ENSP00000402608.2:p.Arg786His | |
| ENST00000451903.3:c.986G>A | ENSP00000406136.2:p.Arg329His | |
| ENST00000673510.1:c.2339G>A | ENSP00000500537.1:p.Arg780His | |
| ENST00000673630.1:c.2339G>A | ENSP00000501073.1:p.Arg780His | |
| ENST00000673698.1:c.819G>A | ||
| ENST00000673711.1:c.2339G>A | ENSP00000501022.1:p.Arg780His | |
| ENST00000674074.1:n.1484G>A | ||
| ENST00000233072.9:c.2339G>A | ENSP00000233072.5:p.Arg780His | |
| ENST00000430249.6:c.2357G>A | ENSP00000402608.2:p.Arg786His | |
| ENST00000451903.2:c.986G>A | ENSP00000406136.2:p.Arg329His | |
| NM_001122633.2:c.2357G>A | NP_001116105.1:p.Arg786His | |
| NM_001122634.3:c.986G>A | NP_001116106.1:p.Arg329His | |
| NM_001875.4:c.2339G>A , LRG_336t1:c.2339G>A | NP_001866.2:p.Arg780His | |
| XM_011510640.1:c.2372G>A | XP_011508942.1:p.Arg791His | |
| XM_011510641.1:c.2339G>A | XP_011508943.1:p.Arg780His | |
| XM_011510642.1:c.2339G>A | XP_011508944.1:p.Arg780His | |
| XM_011510643.1:c.2339G>A | XP_011508945.1:p.Arg780His | |
| XM_011510644.1:c.2339G>A | XP_011508946.1:p.Arg780His | |
| NM_001122633.3:c.2339G>A | NP_001116105.2:p.Arg780His | |
| NM_001369256.1:c.2372G>A | NP_001356185.1:p.Arg791His | |
| NM_001369257.1:c.2339G>A | NP_001356186.1:p.Arg780His | |
| NM_001875.5:c.2339G>A MANE Select | NP_001866.2:p.Arg780His | |
| NR_161225.1:n.3248G>A | ||
| NR_163592.1:n.1495G>A |