Linked Data
ClinVar Variation Id:
207575
ClinVar RCV Id:
RCV000189766
dbSNP Id:
rs796053438
gnomAD v4:
11-6617142-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617142G>A , CM000673.2:g.6617142G>A | GRCh38 |
| NC_000011.9:g.6638373G>A , CM000673.1:g.6638373G>A | GRCh37 |
| NC_000011.8:g.6594949G>A | NCBI36 |
| NG_008653.1:g.7320C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.406C>T | ENSP00000507321.1:p.His136Tyr | |
| ENST00000299427.12:c.520C>T MANE Select | ENSP00000299427.6:p.His174Tyr | |
| ENST00000428886.7:n.755C>T | ||
| ENST00000436873.7:c.312+159C>T | ||
| ENST00000524788.2:n.1679C>T | ||
| ENST00000524903.2:n.1795C>T | ||
| ENST00000528807.2:n.176C>T | ||
| ENST00000530040.2:n.479+217C>T | ||
| ENST00000533371.6:c.-210C>T | ENSP00000437066.1:n.-210C>T | |
| ENST00000534644.6:n.468C>T | ||
| ENST00000642892.1:c.-210C>T | ENSP00000494165.1:n.-210C>T | |
| ENST00000643439.1:c.*260C>T | ENSP00000495849.1:n.*260C>T | |
| ENST00000643479.1:n.549C>T | ||
| ENST00000643516.1:c.395+159C>T | ||
| ENST00000644151.1:n.1959C>T | ||
| ENST00000644218.1:c.520C>T | ENSP00000493574.1:p.His174Tyr | |
| ENST00000644683.1:c.462C>T | ENSP00000494085.1:p.Cys154= | |
| ENST00000644810.1:c.241C>T | ENSP00000495895.1:p.His81Tyr | |
| ENST00000644831.1:n.696C>T | ||
| ENST00000644933.1:c.-210C>T | ENSP00000496133.1:n.-210C>T | |
| ENST00000645020.1:n.1695C>T | ||
| ENST00000645285.1:c.-210C>T | ENSP00000495058.1:n.-210C>T | |
| ENST00000645331.1:n.886C>T | ||
| ENST00000645620.1:c.-210C>T | ENSP00000493657.1:n.-210C>T | |
| ENST00000646777.1:n.696C>T | ||
| ENST00000647016.1:n.1000C>T | ||
| ENST00000647152.1:c.-210C>T | ENSP00000495893.1:n.-210C>T | |
| ENST00000647209.1:c.*389C>T | ENSP00000495558.1:n.*389C>T | |
| ENST00000647346.1:n.1540C>T | ||
| ENST00000299427.10:c.520C>T | ENSP00000299427.6:p.His174Tyr | |
| ENST00000428886.6:n.689C>T | ||
| ENST00000436873.6:c.450+217C>T | ENSP00000398136.2:n.450+217C>T | |
| ENST00000524788.1:n.220C>T | ||
| ENST00000528571.5:c.*260C>T | ENSP00000434647.1:n.*260C>T | |
| ENST00000528807.1:n.70C>T | ||
| ENST00000533371.5:c.-210C>T | ENSP00000437066.1:n.-210C>T | |
| ENST00000534644.5:n.505C>T | ||
| ENST00000611494.4:c.520C>T | ENSP00000484546.1:p.His174Tyr | |
| NM_000391.3:c.520C>T | NP_000382.3:p.His174Tyr | |
| NM_000391.4:c.520C>T MANE Select | NP_000382.3:p.His174Tyr |