Linked Data
ClinVar Variation Id:
213943
dbSNP Id:
rs863223857
gnomAD v4:
3-30672085-A-G
PubMed:
PMID:23884466
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.30672085A>G , CM000665.2:g.30672085A>G | GRCh38 |
| NC_000003.11:g.30713577A>G , CM000665.1:g.30713577A>G | GRCh37 |
| NC_000003.10:g.30688581A>G | NCBI36 |
| NG_007490.1:g.70584A>G , LRG_779:g.70584A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295754.10:c.902A>G MANE Select | ENSP00000295754.5:p.His301Arg | |
| ENST00000672866.1:n.2498A>G | ||
| ENST00000295754.9:c.902A>G | ENSP00000295754.5:p.His301Arg | |
| ENST00000359013.4:c.977A>G | ENSP00000351905.4:p.His326Arg | |
| NM_001024847.2:c.977A>G , LRG_779t1:c.977A>G | NP_001020018.1:p.His326Arg | |
| NM_003242.5:c.902A>G | NP_003233.4:p.His301Arg | |
| XM_011534043.1:c.929A>G | XP_011532345.1:p.His310Arg | |
| XM_011534044.1:c.854A>G | XP_011532346.1:p.His285Arg | |
| XM_011534045.1:c.797A>G | XP_011532347.1:p.His266Arg | |
| XM_011534043.2:c.929A>G | XP_011532345.1:p.His310Arg | |
| XM_011534045.3:c.797A>G | XP_011532347.1:p.His266Arg | |
| XM_017007106.1:c.797A>G | XP_016862595.1:p.His266Arg | |
| NM_003242.6:c.902A>G MANE Select | NP_003233.4:p.His301Arg |