Linked Data
ClinVar Variation Id:
3015
dbSNP Id:
rs119466001
ExAC:
4:122768628 T / C
gnomAD v2:
4-122768628-T-C
gnomAD v3:
4-121847473-T-C
gnomAD v4:
4-121847473-T-C
PubMed:
PMID:12567324
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.121847473T>C , CM000666.2:g.121847473T>C | GRCh38 |
| NC_000004.11:g.122768628T>C , CM000666.1:g.122768628T>C | GRCh37 |
| NC_000004.10:g.122988078T>C | NCBI36 |
| NG_009111.1:g.28015A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000264499.9:c.968A>G MANE Select | ENSP00000264499.4:p.His323Arg | |
| ENST00000264499.8:c.968A>G | ENSP00000264499.4:p.His323Arg | |
| ENST00000506636.1:c.968A>G | ENSP00000423626.1:p.His323Arg | |
| NM_018190.3:c.968A>G | NP_060660.2:p.His323Arg | |
| NM_176824.2:c.968A>G | NP_789794.1:p.His323Arg | |
| XM_005263106.2:c.971A>G | XP_005263163.1:p.His324Arg | |
| XM_011532079.1:c.1016A>G | XP_011530381.1:p.His339Arg | |
| XM_011532080.1:c.1013A>G | XP_011530382.1:p.His338Arg | |
| XM_011532081.1:c.1016A>G | XP_011530383.1:p.His339Arg | |
| XM_005263106.4:c.971A>G | XP_005263163.1:p.His324Arg | |
| XM_011532079.3:c.1016A>G | XP_011530381.1:p.His339Arg | |
| XM_011532080.3:c.1013A>G | XP_011530382.1:p.His338Arg | |
| XM_011532081.3:c.1016A>G | XP_011530383.1:p.His339Arg | |
| XM_017008357.2:c.968A>G | XP_016863846.1:p.His323Arg | |
| XM_017008358.2:c.971A>G | XP_016863847.1:p.His324Arg | |
| NM_176824.3:c.968A>G MANE Select | NP_789794.1:p.His323Arg | |
| NM_018190.4:c.968A>G | NP_060660.2:p.His323Arg |