Linked Data
ClinVar Variation Id:
3346
dbSNP Id:
rs121434251
ExAC:
2:31754383 T / C
gnomAD v2:
2-31754383-T-C
gnomAD v3:
2-31529313-T-C
gnomAD v4:
2-31529313-T-C
PubMed:
PMID:9745434
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.31529313T>C , CM000664.2:g.31529313T>C | GRCh38 |
| NC_000002.11:g.31754383T>C , CM000664.1:g.31754383T>C | GRCh37 |
| NC_000002.10:g.31607887T>C | NCBI36 |
| NG_008365.1:g.56659A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000622030.2:c.692A>G MANE Select | ENSP00000477587.1:p.His231Arg | |
| ENST00000622030.1:c.692A>G | ENSP00000477587.1:p.His231Arg | |
| NM_000348.3:c.692A>G | NP_000339.2:p.His231Arg | |
| XM_011533069.1:c.470A>G | XP_011531371.1:p.His157Arg | |
| XM_011533070.1:c.437A>G | XP_011531372.1:p.His146Arg | |
| XM_011533071.1:c.437A>G | XP_011531373.1:p.His146Arg | |
| XM_011533072.1:c.437A>G | XP_011531374.1:p.His146Arg | |
| XM_011533069.2:c.470A>G | XP_011531371.1:p.His157Arg | |
| XM_011533072.2:c.437A>G | XP_011531374.1:p.His146Arg | |
| NM_000348.4:c.692A>G MANE Select | NP_000339.2:p.His231Arg |