Linked Data
ClinVar Variation Id:
38872
dbSNP Id:
rs62653611
gnomAD v3:
6-136898192-A-G
gnomAD v4:
6-136898192-A-G
PubMed:
PMID:20301447
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.136898192A>G , CM000668.2:g.136898192A>G | GRCh38 |
| NC_000006.11:g.137219330A>G , CM000668.1:g.137219330A>G | GRCh37 |
| NC_000006.10:g.137261023A>G | NCBI36 |
| NG_008462.1:g.80613A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000318471.5:c.854A>G MANE Select | ENSP00000315680.3:p.His285Arg | |
| ENST00000541292.6:c.*119A>G | ENSP00000441004.1:n.*119A>G | |
| ENST00000678002.1:c.542A>G | ||
| ENST00000678557.1:c.740A>G | ENSP00000502962.1:p.His247Arg | |
| ENST00000679286.1:c.734A>G | ENSP00000503168.1:p.His245Arg | |
| ENST00000318471.4:c.854A>G | ENSP00000315680.3:p.His285Arg | |
| NM_000288.3:c.854A>G | NP_000279.1:p.His285Arg | |
| XM_005267019.3:c.740A>G | XP_005267076.1:p.His247Arg | |
| XM_006715502.1:c.560A>G | XP_006715565.1:p.His187Arg | |
| XM_011535900.1:c.577A>G | XP_011534202.1:p.Ile193Val | |
| XM_005267019.4:c.740A>G | XP_005267076.1:p.His247Arg | |
| XM_006715502.2:c.560A>G | XP_006715565.1:p.His187Arg | |
| XM_017010934.2:c.577A>G | XP_016866423.1:p.Ile193Val | |
| NM_000288.4:c.854A>G MANE Select | NP_000279.1:p.His285Arg |