Linked Data
ClinVar Variation Id:
157538
dbSNP Id:
rs147531758
ExAC:
8:1871183 C / T
gnomAD v2:
8-1871183-C-T
gnomAD v3:
8-1923017-C-T
gnomAD v4:
8-1923017-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000008.11:g.1923017C>T , CM000670.2:g.1923017C>T | GRCh38 |
| NC_000008.10:g.1871183C>T , CM000670.1:g.1871183C>T | GRCh37 |
| NC_000008.9:g.1858590C>T | NCBI36 |
| NG_008480.1:g.104035C>T , LRG_234:g.104035C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000349830.8:c.2197C>T MANE Select | ENSP00000340297.3:p.His733Tyr | |
| ENST00000635773.1:c.2725C>T | ||
| ENST00000635855.1:c.*2151C>T | ENSP00000489726.1:n.*2151C>T | |
| ENST00000349830.7:c.2197C>T | ENSP00000340297.3:p.His733Tyr | |
| ENST00000398564.5:c.2272C>T | ENSP00000381571.1:p.His758Tyr | |
| ENST00000518288.5:c.2269C>T | ENSP00000431012.1:p.His757Tyr | |
| ENST00000520359.5:c.2083C>T | ENSP00000427909.1:p.His695Tyr | |
| ENST00000522435.5:c.1216C>T | ENSP00000427768.1:p.His406Tyr | |
| ENST00000523711.5:n.1921C>T | ||
| ENST00000524212.1:n.453C>T | ||
| NM_001308152.1:c.2083C>T | NP_001295081.1:p.His695Tyr | |
| NM_001308153.1:c.2269C>T | NP_001295082.1:p.His757Tyr | |
| NM_014629.2:c.2197C>T , LRG_234t1:c.2197C>T | NP_055444.2:p.His733Tyr | |
| NM_014629.3:c.2197C>T | NP_055444.2:p.His733Tyr | |
| XM_005266041.2:c.2200C>T | XP_005266098.1:p.His734Tyr | |
| XM_011534766.1:c.2200C>T | XP_011533068.1:p.His734Tyr | |
| XM_011534767.1:c.2080C>T | XP_011533069.1:p.His694Tyr | |
| XM_011534768.1:c.2200C>T | XP_011533070.1:p.His734Tyr | |
| XM_011534769.1:c.2155C>T | XP_011533071.1:p.His719Tyr | |
| XM_011534770.1:c.2200C>T | XP_011533072.1:p.His734Tyr | |
| XM_005266041.4:c.2200C>T | XP_005266098.1:p.His734Tyr | |
| XM_011534767.2:c.2080C>T | XP_011533069.1:p.His694Tyr | |
| XM_011534770.2:c.2200C>T | XP_011533072.1:p.His734Tyr | |
| XM_017014003.1:c.2272C>T | XP_016869492.1:p.His758Tyr | |
| XM_024447334.1:c.2200C>T | XP_024303102.1:p.His734Tyr | |
| XM_024447335.1:c.2284C>T | XP_024303103.1:p.His762Tyr | |
| NM_014629.4:c.2197C>T MANE Select | NP_055444.2:p.His733Tyr | |
| NM_001308152.2:c.2083C>T | NP_001295081.1:p.His695Tyr | |
| NM_001308153.2:c.2269C>T | NP_001295082.1:p.His757Tyr |