Linked Data
ClinVar Variation Id:
585143
ClinVar RCV Id:
RCV000709959
dbSNP Id:
rs377313924
ExAC:
21:40582852 G / A
gnomAD v2:
21-40582852-G-A
gnomAD v4:
21-39210926-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000021.9:g.39210926G>A , CM000683.2:g.39210926G>A | GRCh38 |
| NC_000021.8:g.40582852G>A , CM000683.1:g.40582852G>A | GRCh37 |
| NC_000021.7:g.39504722G>A | NCBI36 |
| NG_029919.1:g.107861C>T | |
| NG_029919.2:g.107861C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000342449.8:c.3904C>T MANE Select | ENSP00000344333.3:p.His1302Tyr | |
| ENST00000333229.6:c.3904C>T | ENSP00000330753.2:p.His1302Tyr | |
| ENST00000342449.7:c.3904C>T | ENSP00000344333.3:p.His1302Tyr | |
| ENST00000380800.7:c.3904C>T | ENSP00000370178.3:p.His1302Tyr | |
| ENST00000424441.1:c.857-779C>T | ||
| ENST00000446924.5:c.2151C>T | ENSP00000391014.1:n.2151C>T | |
| ENST00000473813.1:n.522C>T | ||
| NM_018963.4:c.3904C>T | NP_061836.2:p.His1302Tyr | |
| NM_033656.3:c.3904C>T | NP_387505.1:p.His1302Tyr | |
| XM_011529611.1:c.3901-779C>T | XP_011527913.1:n.3901-779C>T | |
| XM_011529612.1:c.3064C>T | XP_011527914.1:p.His1022Tyr | |
| XM_011529613.1:c.937C>T | XP_011527915.1:p.His313Tyr | |
| XM_011529612.2:c.3064C>T | XP_011527914.1:p.His1022Tyr | |
| XM_017028373.1:c.3643C>T | XP_016883862.1:p.His1215Tyr | |
| XM_017028374.1:c.937C>T | XP_016883863.1:p.His313Tyr | |
| NM_018963.5:c.3904C>T | NP_061836.2:p.His1302Tyr | |
| NM_033656.4:c.3904C>T MANE Select | NP_387505.1:p.His1302Tyr |