Linked Data
ClinVar Variation Id:
192264
dbSNP Id:
rs541928674
ExAC:
2:238253159 C / T
gnomAD v2:
2-238253159-C-T
gnomAD v3:
2-237344516-C-T
gnomAD v4:
2-237344516-C-T
COSMIC:
COSM6030249
PubMed:
PMID:26004199
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237344516C>T , CM000664.2:g.237344516C>T | GRCh38 |
| NC_000002.11:g.238253159C>T , CM000664.1:g.238253159C>T | GRCh37 |
| NC_000002.10:g.237917898C>T | NCBI36 |
| NG_008676.1:g.74692G>A , LRG_473:g.74692G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000347401.8:c.147G>A | ||
| ENST00000353578.9:c.6884G>A | ENSP00000315873.4:p.Arg2295His | |
| ENST00000295550.9:c.7502G>A MANE Select | ENSP00000295550.4:p.Arg2501His | |
| ENST00000295550.8:c.7502G>A | ENSP00000295550.4:p.Arg2501His | |
| ENST00000347401.7:c.5678G>A | ENSP00000315609.4:p.Arg1893His | |
| ENST00000353578.8:c.6884G>A | ENSP00000315873.4:p.Arg2295His | |
| ENST00000409809.5:c.6884G>A | ENSP00000386844.1:p.Arg2295His | |
| ENST00000472056.5:c.5681G>A | ENSP00000418285.1:p.Arg1894His | |
| ENST00000491769.1:n.1756G>A | ||
| NM_004369.3:c.7502G>A , LRG_473t1:c.7502G>A | NP_004360.2:p.Arg2501His | |
| NM_057166.4:c.5681G>A | NP_476507.3:p.Arg1894His | |
| NM_057167.3:c.6884G>A | NP_476508.2:p.Arg2295His | |
| XM_005246065.1:c.6902G>A | XP_005246122.1:p.Arg2301His | |
| XM_005246066.1:c.6281G>A | XP_005246123.1:p.Arg2094His | |
| XM_006712253.1:c.7001G>A | XP_006712316.1:p.Arg2334His | |
| XM_011510574.1:c.7499G>A | XP_011508876.1:p.Arg2500His | |
| XM_011510575.1:c.5096G>A | XP_011508877.1:p.Arg1699His | |
| XM_017003304.1:c.5096G>A | XP_016858793.1:p.Arg1699His | |
| XM_024452684.1:c.6281G>A | XP_024308452.1:p.Arg2094His | |
| NM_004369.4:c.7502G>A MANE Select | NP_004360.2:p.Arg2501His | |
| NM_057166.5:c.5681G>A | NP_476507.3:p.Arg1894His | |
| NM_057167.4:c.6884G>A | NP_476508.2:p.Arg2295His |