Linked Data
ClinVar Variation Id:
14782
ClinVar RCV Id:
RCV000015905
dbSNP Id:
rs121912458
gnomAD v2:
21-33039573-A-G
PubMed:
PMID:12402272
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.31667260A>G , CM000683.2:g.31667260A>G | GRCh38 |
| NC_000021.8:g.33039573A>G , CM000683.1:g.33039573A>G | GRCh37 |
| NC_000021.7:g.31961444A>G | NCBI36 |
| NG_008689.1:g.12639A>G , LRG_652:g.12639A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000270142.11:c.242A>G MANE Select | ENSP00000270142.7:p.His81Arg | |
| ENST00000270142.10:c.242A>G | ENSP00000270142.6:p.His81Arg | |
| ENST00000389995.4:c.185A>G | ENSP00000374645.4:p.His62Arg | |
| ENST00000470944.1:n.1170A>G | ||
| ENST00000476106.5:n.505A>G | ||
| NM_000454.4:c.242A>G , LRG_652t1:c.242A>G | NP_000445.1:p.His81Arg | |
| NM_000454.5:c.242A>G MANE Select | NP_000445.1:p.His81Arg |