Linked Data
ClinVar Variation Id:
392231
dbSNP Id:
rs145905196
ExAC:
11:1776146 G / A
gnomAD v2:
11-1776146-G-A
gnomAD v3:
11-1754916-G-A
gnomAD v4:
11-1754916-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.1754916G>A , CM000673.2:g.1754916G>A | GRCh38 |
| NC_000011.9:g.1776146G>A , CM000673.1:g.1776146G>A | GRCh37 |
| NC_000011.8:g.1732722G>A | NCBI36 |
| NG_008655.1:g.14077C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000236671.7:c.817C>T MANE Select | ENSP00000236671.2:p.His273Tyr | |
| ENST00000367196.4:c.712C>T | ENSP00000356164.4:p.His238Tyr | |
| ENST00000427721.3:c.242C>T | ||
| ENST00000429746.2:c.712C>T | ENSP00000402586.2:p.His238Tyr | |
| ENST00000433655.6:c.817C>T | ENSP00000404902.1:p.His273Tyr | |
| ENST00000438213.6:c.817C>T | ENSP00000415036.2:p.His273Tyr | |
| ENST00000497544.3:n.433C>T | ||
| ENST00000636397.1:c.817C>T | ENSP00000489910.1:p.His273Tyr | |
| ENST00000636571.1:c.796C>T | ENSP00000490770.1:p.His266Tyr | |
| ENST00000636615.1:c.817C>T | ENSP00000490014.1:p.His273Tyr | |
| ENST00000636843.1:c.811C>T | ENSP00000490897.1:p.His271Tyr | |
| ENST00000637158.1:n.415C>T | ||
| ENST00000637381.2:n.3245C>T | ||
| ENST00000637387.1:c.817C>T | ENSP00000490598.1:p.His273Tyr | |
| ENST00000637815.2:c.809+8C>T | ENSP00000490344.1:n.809+8C>T | |
| ENST00000637915.1:c.817C>T | ENSP00000490471.1:p.His273Tyr | |
| ENST00000637937.1:n.125C>T | ||
| ENST00000678991.1:c.*678C>T | ENSP00000503019.1:n.*678C>T | |
| ENST00000236671.6:c.817C>T | ENSP00000236671.2:p.His273Tyr | |
| ENST00000427721.2:c.217C>T | ENSP00000415840.2:p.His73Tyr | |
| ENST00000429746.1:c.31C>T | ENSP00000402586.1:p.His11Tyr | |
| ENST00000433655.5:c.817C>T | ENSP00000404902.1:p.His273Tyr | |
| ENST00000438213.5:c.772C>T | ENSP00000415036.1:p.His258Tyr | |
| ENST00000497544.1:n.433C>T | ||
| NM_001909.4:c.817C>T | NP_001900.1:p.His273Tyr | |
| NM_001909.5:c.817C>T MANE Select | NP_001900.1:p.His273Tyr |