Linked Data
ClinVar Variation Id:
5103
ClinVar RCV Id:
RCV000005409
RCV000005410
RCV000034607
RCV000054851
RCV000118692
RCV000129684
RCV000278906
dbSNP Id:
rs118203657
ExAC:
9:135779052 G / A
gnomAD v2:
9-135779052-G-A
gnomAD v3:
9-132903665-G-A
gnomAD v4:
9-132903665-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.132903665G>A , CM000671.2:g.132903665G>A | GRCh38 |
| NC_000009.11:g.135779052G>A , CM000671.1:g.135779052G>A | GRCh37 |
| NC_000009.10:g.134768873G>A | NCBI36 |
| NG_012386.1:g.45969C>T , LRG_486:g.45969C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000475903.7:c.2191C>T | ENSP00000496126.2:p.His731Tyr | |
| ENST00000490179.4:c.2194C>T | ENSP00000495533.2:p.His732Tyr | |
| ENST00000642261.2:c.2194C>T | ENSP00000494743.2:p.His732Tyr | |
| ENST00000643275.2:c.*134C>T | ENSP00000495598.2:n.*134C>T | |
| ENST00000643362.2:c.1807C>T | ENSP00000496398.2:p.His603Tyr | |
| ENST00000643625.2:c.2041+746C>T | ENSP00000495546.2:n.2041+746C>T | |
| ENST00000643691.2:c.1831C>T | ENSP00000494916.2:p.His611Tyr | |
| ENST00000644184.2:c.2194C>T | ENSP00000495428.2:p.His732Tyr | |
| ENST00000645129.2:c.2038C>T | ENSP00000493639.2:p.His680Tyr | |
| ENST00000646440.2:c.2194C>T | ENSP00000495830.2:p.His732Tyr | |
| ENST00000298552.9:c.2194C>T MANE Select | ENSP00000298552.3:p.His732Tyr | |
| ENST00000642261.1:c.258C>T | ||
| ENST00000642617.1:c.2191C>T | ENSP00000493773.1:p.His731Tyr | |
| ENST00000642627.1:c.2176C>T | ENSP00000496772.1:p.His726Tyr | |
| ENST00000642811.1:c.*1964C>T | ENSP00000495554.1:n.*1964C>T | |
| ENST00000643072.1:c.2041C>T | ENSP00000496691.1:p.His681Tyr | |
| ENST00000643275.1:c.668C>T | ENSP00000495598.1:n.668C>T | |
| ENST00000643583.1:c.2179C>T | ENSP00000494685.1:p.His727Tyr | |
| ENST00000643625.1:c.85+746C>T | ENSP00000495546.1:n.85+746C>T | |
| ENST00000643875.1:c.2194C>T | ENSP00000495158.1:p.His732Tyr | |
| ENST00000644097.1:c.2191C>T | ENSP00000494682.1:p.His731Tyr | |
| ENST00000644184.1:c.931C>T | ENSP00000495428.1:p.His311Tyr | |
| ENST00000644255.1:c.*1961C>T | ENSP00000493608.1:n.*1961C>T | |
| ENST00000644319.1:n.2569C>T | ||
| ENST00000644882.1:n.1149C>T | ||
| ENST00000645901.1:n.3045C>T | ||
| ENST00000646391.1:c.*1964C>T | ENSP00000494104.1:n.*1964C>T | |
| ENST00000646625.1:c.2194C>T | ENSP00000496263.1:p.His732Tyr | |
| ENST00000647262.1:n.1159C>T | ||
| ENST00000647279.1:c.*1433C>T | ENSP00000494502.1:n.*1433C>T | |
| ENST00000647506.1:n.3070C>T | ||
| ENST00000647534.1:n.1258C>T | ||
| ENST00000298552.7:c.2194C>T | ENSP00000298552.3:p.His732Tyr | |
| ENST00000440111.6:c.2194C>T | ENSP00000394524.2:p.His732Tyr | |
| ENST00000545250.5:c.2041C>T | ENSP00000444017.1:p.His681Tyr | |
| NM_000368.4:c.2194C>T , LRG_486t1:c.2194C>T | NP_000359.1:p.His732Tyr | |
| NM_001162426.1:c.2191C>T | NP_001155898.1:p.His731Tyr | |
| NM_001162427.1:c.2041C>T | NP_001155899.1:p.His681Tyr | |
| XM_005272211.1:c.2194C>T | XP_005272268.1:p.His732Tyr | |
| XM_006717271.1:c.2194C>T | XP_006717334.1:p.His732Tyr | |
| XM_011518979.1:c.2194C>T | XP_011517281.1:p.His732Tyr | |
| NM_001362177.1:c.1831C>T | NP_001349106.1:p.His611Tyr | |
| XM_011518979.2:c.2194C>T | XP_011517281.1:p.His732Tyr | |
| XM_017015096.1:c.2194C>T | XP_016870585.1:p.His732Tyr | |
| XM_017015097.1:c.2194C>T | XP_016870586.1:p.His732Tyr | |
| XM_017015098.1:c.2191C>T | XP_016870587.1:p.His731Tyr | |
| XM_017015100.1:c.1831C>T | XP_016870589.1:p.His611Tyr | |
| XM_017015101.1:c.1828C>T | XP_016870590.1:p.His610Tyr | |
| NM_000368.5:c.2194C>T MANE Select | NP_000359.1:p.His732Tyr | |
| NM_001162426.2:c.2191C>T | NP_001155898.1:p.His731Tyr | |
| NM_001162427.2:c.2041C>T | NP_001155899.1:p.His681Tyr | |
| NM_001362177.2:c.1831C>T | NP_001349106.1:p.His611Tyr |