Linked Data
ClinVar Variation Id:
1405584
ClinVar RCV Id:
RCV001935205
dbSNP Id:
rs2134595577
gnomAD v4:
11-6617316-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617316G>A , CM000673.2:g.6617316G>A | GRCh38 |
| NC_000011.9:g.6638547G>A , CM000673.1:g.6638547G>A | GRCh37 |
| NC_000011.8:g.6595123G>A | NCBI36 |
| NG_008653.1:g.7146C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.379C>T | ENSP00000507321.1:p.Pro127Ser | |
| ENST00000299427.12:c.493C>T MANE Select | ENSP00000299427.6:p.Pro165Ser | |
| ENST00000428886.7:n.581C>T | ||
| ENST00000436873.7:c.297C>T | ||
| ENST00000524788.2:n.1505C>T | ||
| ENST00000524903.2:n.1621C>T | ||
| ENST00000528571.6:c.*233C>T | ENSP00000434647.1:n.*233C>T | |
| ENST00000528807.2:n.149C>T | ||
| ENST00000530040.2:n.479+43C>T | ||
| ENST00000533371.6:c.-237C>T | ENSP00000437066.1:n.-237C>T | |
| ENST00000534644.6:n.456+38C>T | ||
| ENST00000642892.1:c.-222+38C>T | ENSP00000494165.1:n.-222+38C>T | |
| ENST00000643439.1:c.*233C>T | ENSP00000495849.1:n.*233C>T | |
| ENST00000643479.1:n.522C>T | ||
| ENST00000643516.1:c.380C>T | ||
| ENST00000644151.1:n.1785C>T | ||
| ENST00000644218.1:c.493C>T | ENSP00000493574.1:p.Pro165Ser | |
| ENST00000644683.1:c.450+43C>T | ENSP00000494085.1:n.450+43C>T | |
| ENST00000644810.1:c.230-163C>T | ENSP00000495895.1:n.230-163C>T | |
| ENST00000644831.1:n.522C>T | ||
| ENST00000644933.1:c.-237C>T | ENSP00000496133.1:n.-237C>T | |
| ENST00000645020.1:n.1521C>T | ||
| ENST00000645285.1:c.-237C>T | ENSP00000495058.1:n.-237C>T | |
| ENST00000645331.1:n.712C>T | ||
| ENST00000645620.1:c.-222+43C>T | ENSP00000493657.1:n.-222+43C>T | |
| ENST00000646777.1:n.522C>T | ||
| ENST00000647016.1:n.826C>T | ||
| ENST00000647152.1:c.-237C>T | ENSP00000495893.1:n.-237C>T | |
| ENST00000647209.1:c.*362C>T | ENSP00000495558.1:n.*362C>T | |
| ENST00000647346.1:n.1513C>T | ||
| ENST00000299427.10:c.493C>T | ENSP00000299427.6:p.Pro165Ser | |
| ENST00000428886.6:n.515C>T | ||
| ENST00000436873.6:c.450+43C>T | ENSP00000398136.2:n.450+43C>T | |
| ENST00000524788.1:n.46C>T | ||
| ENST00000528571.5:c.*233C>T | ENSP00000434647.1:n.*233C>T | |
| ENST00000533371.5:c.-237C>T | ENSP00000437066.1:n.-237C>T | |
| ENST00000534644.5:n.478C>T | ||
| ENST00000611494.4:c.493C>T | ENSP00000484546.1:p.Pro165Ser | |
| NM_000391.3:c.493C>T | NP_000382.3:p.Pro165Ser | |
| NM_000391.4:c.493C>T MANE Select | NP_000382.3:p.Pro165Ser |