Linked Data
ClinVar Variation Id:
470835
dbSNP Id:
rs1034835558
gnomAD v2:
2-29443675-C-T
gnomAD v4:
2-29220809-C-T
COSMIC:
COSM6226578
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.29220809C>T , CM000664.2:g.29220809C>T | GRCh38 |
| NC_000002.11:g.29443675C>T , CM000664.1:g.29443675C>T | GRCh37 |
| NC_000002.10:g.29297179C>T | NCBI36 |
| NG_009445.1:g.705758G>A , LRG_488:g.705758G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000389048.8:c.3542G>A MANE Select | ENSP00000373700.3:p.Arg1181His | |
| ENST00000431873.6:c.769G>A | ||
| ENST00000638605.1:n.419G>A | ||
| ENST00000642122.1:c.338G>A | ENSP00000493203.1:p.Arg113His | |
| ENST00000389048.7:c.3542G>A | ENSP00000373700.3:p.Arg1181His | |
| ENST00000431873.5:c.422G>A | ENSP00000414027.2:p.Arg141His | |
| ENST00000618119.4:c.2411G>A | ENSP00000482733.1:p.Arg804His | |
| NM_004304.4:c.3542G>A | NP_004295.2:p.Arg1181His | |
| NM_001353765.1:c.338G>A | NP_001340694.1:p.Arg113His | |
| XM_024452778.1:c.695G>A | XP_024308546.1:p.Arg232His | |
| XM_024452779.1:c.338G>A | XP_024308547.1:p.Arg113His | |
| NM_004304.5:c.3542G>A MANE Select | NP_004295.2:p.Arg1181His | |
| NM_001353765.2:c.338G>A | NP_001340694.1:p.Arg113His |