Linked Data
ClinVar Variation Id:
383169
dbSNP Id:
rs1057521538
gnomAD v2:
11-6638620-G-A
gnomAD v4:
11-6617389-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617389G>A , CM000673.2:g.6617389G>A | GRCh38 |
| NC_000011.9:g.6638620G>A , CM000673.1:g.6638620G>A | GRCh37 |
| NC_000011.8:g.6595196G>A | NCBI36 |
| NG_008653.1:g.7073C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.306C>T | ENSP00000507321.1:p.His102= | |
| ENST00000299427.12:c.420C>T MANE Select | ENSP00000299427.6:p.His140= | |
| ENST00000428886.7:n.508C>T | ||
| ENST00000436873.7:c.224C>T | ||
| ENST00000524788.2:n.1432C>T | ||
| ENST00000524903.2:n.1548C>T | ||
| ENST00000528571.6:c.*160C>T | ENSP00000434647.1:n.*160C>T | |
| ENST00000528807.2:n.76C>T | ||
| ENST00000530040.2:n.449C>T | ||
| ENST00000533371.6:c.-310C>T | ENSP00000437066.1:n.-310C>T | |
| ENST00000534644.6:n.421C>T | ||
| ENST00000642892.1:c.-257C>T | ENSP00000494165.1:n.-257C>T | |
| ENST00000643439.1:c.*160C>T | ENSP00000495849.1:n.*160C>T | |
| ENST00000643479.1:n.449C>T | ||
| ENST00000643516.1:c.307C>T | ||
| ENST00000644151.1:n.1712C>T | ||
| ENST00000644218.1:c.420C>T | ENSP00000493574.1:p.His140= | |
| ENST00000644683.1:c.420C>T | ENSP00000494085.1:p.His140= | |
| ENST00000644810.1:c.230-236C>T | ENSP00000495895.1:n.230-236C>T | |
| ENST00000644831.1:n.449C>T | ||
| ENST00000644933.1:c.-310C>T | ENSP00000496133.1:n.-310C>T | |
| ENST00000645020.1:n.1448C>T | ||
| ENST00000645285.1:c.-310C>T | ENSP00000495058.1:n.-310C>T | |
| ENST00000645331.1:n.639C>T | ||
| ENST00000645620.1:c.-252C>T | ENSP00000493657.1:n.-252C>T | |
| ENST00000646777.1:n.449C>T | ||
| ENST00000647016.1:n.753C>T | ||
| ENST00000647152.1:c.-310C>T | ENSP00000495893.1:n.-310C>T | |
| ENST00000647209.1:c.*289C>T | ENSP00000495558.1:n.*289C>T | |
| ENST00000647346.1:n.1440C>T | ||
| ENST00000299427.10:c.420C>T | ENSP00000299427.6:p.His140= | |
| ENST00000428886.6:n.442C>T | ||
| ENST00000436873.6:c.420C>T | ENSP00000398136.2:p.His140= | |
| ENST00000528571.5:c.*160C>T | ENSP00000434647.1:n.*160C>T | |
| ENST00000530040.1:n.532C>T | ||
| ENST00000533371.5:c.-310C>T | ENSP00000437066.1:n.-310C>T | |
| ENST00000534644.5:n.405C>T | ||
| ENST00000611494.4:c.420C>T | ENSP00000484546.1:p.His140= | |
| NM_000391.3:c.420C>T | NP_000382.3:p.His140= | |
| NM_000391.4:c.420C>T MANE Select | NP_000382.3:p.His140= |