Linked Data
ClinVar Variation Id:
960462
ClinVar RCV Id:
RCV001233991
dbSNP Id:
rs868090227
gnomAD v2:
11-6635809-G-A
gnomAD v3:
11-6614578-G-A
gnomAD v4:
11-6614578-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6614578G>A , CM000673.2:g.6614578G>A | GRCh38 |
| NC_000011.9:g.6635809G>A , CM000673.1:g.6635809G>A | GRCh37 |
| NC_000011.8:g.6592385G>A | NCBI36 |
| NG_008653.1:g.9884C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.1546C>T | ENSP00000507321.1:p.Pro516Ser | |
| ENST00000299427.12:c.1660C>T MANE Select | ENSP00000299427.6:p.Pro554Ser | |
| ENST00000524611.2:n.699C>T | ||
| ENST00000533371.6:c.931C>T | ENSP00000437066.1:p.Pro311Ser | |
| ENST00000642892.1:c.931C>T | ENSP00000494165.1:p.Pro311Ser | |
| ENST00000643342.1:c.733C>T | ||
| ENST00000643439.1:c.*1400C>T | ENSP00000495849.1:n.*1400C>T | |
| ENST00000643479.1:n.1846C>T | ||
| ENST00000643516.1:c.1169C>T | ||
| ENST00000644218.1:c.1471C>T | ENSP00000493574.1:p.Pro491Ser | |
| ENST00000644683.1:c.*1113C>T | ENSP00000494085.1:n.*1113C>T | |
| ENST00000644810.1:c.1381C>T | ENSP00000495895.1:p.Pro461Ser | |
| ENST00000644831.1:n.1836C>T | ||
| ENST00000644933.1:c.*526C>T | ENSP00000496133.1:n.*526C>T | |
| ENST00000645285.1:c.*526C>T | ENSP00000495058.1:n.*526C>T | |
| ENST00000645331.1:n.2865C>T | ||
| ENST00000645620.1:c.931C>T | ENSP00000493657.1:p.Pro311Ser | |
| ENST00000646691.1:n.1547C>T | ||
| ENST00000646777.1:n.1993C>T | ||
| ENST00000647016.1:n.2140C>T | ||
| ENST00000647152.1:c.931C>T | ENSP00000495893.1:p.Pro311Ser | |
| ENST00000647209.1:c.*1529C>T | ENSP00000495558.1:n.*1529C>T | |
| ENST00000647346.1:n.2680C>T | ||
| ENST00000299427.10:c.1660C>T | ENSP00000299427.6:p.Pro554Ser | |
| ENST00000533371.5:c.931C>T | ENSP00000437066.1:p.Pro311Ser | |
| ENST00000611494.4:c.1659C>T | ENSP00000484546.1:p.Ser553= | |
| NM_000391.3:c.1660C>T | NP_000382.3:p.Pro554Ser | |
| NM_000391.4:c.1660C>T MANE Select | NP_000382.3:p.Pro554Ser |