Linked Data
ClinVar Variation Id:
476527
dbSNP Id:
rs368151192
ExAC:
2:238277415 C / T
gnomAD v2:
2-238277415-C-T
gnomAD v3:
2-237368772-C-T
gnomAD v4:
2-237368772-C-T
COSMIC:
COSM477139
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.237368772C>T , CM000664.2:g.237368772C>T | GRCh38 |
| NC_000002.11:g.238277415C>T , CM000664.1:g.238277415C>T | GRCh37 |
| NC_000002.10:g.237942154C>T | NCBI36 |
| NG_008676.1:g.50436G>A , LRG_473:g.50436G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000353578.9:c.4073G>A | ENSP00000315873.4:p.Arg1358His | |
| ENST00000684597.1:c.117-96G>A | ||
| ENST00000295550.9:c.4691G>A MANE Select | ENSP00000295550.4:p.Arg1564His | |
| ENST00000295550.8:c.4691G>A | ENSP00000295550.4:p.Arg1564His | |
| ENST00000347401.7:c.2870G>A | ENSP00000315609.4:p.Arg957His | |
| ENST00000353578.8:c.4073G>A | ENSP00000315873.4:p.Arg1358His | |
| ENST00000409809.5:c.4073G>A | ENSP00000386844.1:p.Arg1358His | |
| ENST00000472056.5:c.2870G>A | ENSP00000418285.1:p.Arg957His | |
| NM_004369.3:c.4691G>A , LRG_473t1:c.4691G>A | NP_004360.2:p.Arg1564His | |
| NM_057166.4:c.2870G>A | NP_476507.3:p.Arg957His | |
| NM_057167.3:c.4073G>A | NP_476508.2:p.Arg1358His | |
| XM_005246065.1:c.4091G>A | XP_005246122.1:p.Arg1364His | |
| XM_005246066.1:c.3470G>A | XP_005246123.1:p.Arg1157His | |
| XM_006712253.1:c.4286-96G>A | XP_006712316.1:n.4286-96G>A | |
| XM_011510574.1:c.4688G>A | XP_011508876.1:p.Arg1563His | |
| XM_011510575.1:c.2285G>A | XP_011508877.1:p.Arg762His | |
| XM_017003304.1:c.2285G>A | XP_016858793.1:p.Arg762His | |
| XM_024452684.1:c.3470G>A | XP_024308452.1:p.Arg1157His | |
| NM_004369.4:c.4691G>A MANE Select | NP_004360.2:p.Arg1564His | |
| NM_057166.5:c.2870G>A | NP_476507.3:p.Arg957His | |
| NM_057167.4:c.4073G>A | NP_476508.2:p.Arg1358His |