Linked Data
ClinVar Variation Id:
1143209
ClinVar RCV Id:
RCV001481289
dbSNP Id:
rs2134596122
gnomAD v4:
11-6617631-G-A
MyVariant Identifiers:
chr11:g.6638862G>A (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6617631G>A , CM000673.2:g.6617631G>A | GRCh38 |
| NC_000011.9:g.6638862G>A , CM000673.1:g.6638862G>A | GRCh37 |
| NC_000011.8:g.6595438G>A | NCBI36 |
| NG_008653.1:g.6831C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.261C>T | ENSP00000507321.1:p.Ser87= | |
| ENST00000299427.12:c.375C>T MANE Select | ENSP00000299427.6:p.Ser125= | |
| ENST00000428886.7:n.463C>T | ||
| ENST00000436873.7:c.179C>T | ||
| ENST00000524788.2:n.1387C>T | ||
| ENST00000524903.2:n.1503C>T | ||
| ENST00000528571.6:c.*115C>T | ENSP00000434647.1:n.*115C>T | |
| ENST00000530040.2:n.404C>T | ||
| ENST00000533371.6:c.-355C>T | ENSP00000437066.1:n.-355C>T | |
| ENST00000534644.6:n.376C>T | ||
| ENST00000642892.1:c.-302C>T | ENSP00000494165.1:n.-302C>T | |
| ENST00000643439.1:c.*115C>T | ENSP00000495849.1:n.*115C>T | |
| ENST00000643479.1:n.404C>T | ||
| ENST00000643516.1:c.262C>T | ||
| ENST00000644151.1:n.1667C>T | ||
| ENST00000644218.1:c.375C>T | ENSP00000493574.1:p.Ser125= | |
| ENST00000644683.1:c.375C>T | ENSP00000494085.1:p.Ser125= | |
| ENST00000644810.1:c.230-478C>T | ENSP00000495895.1:n.230-478C>T | |
| ENST00000644831.1:n.404C>T | ||
| ENST00000644933.1:c.-355C>T | ENSP00000496133.1:n.-355C>T | |
| ENST00000645020.1:n.1403C>T | ||
| ENST00000645285.1:c.-355C>T | ENSP00000495058.1:n.-355C>T | |
| ENST00000645331.1:n.397C>T | ||
| ENST00000645620.1:c.-297C>T | ENSP00000493657.1:n.-297C>T | |
| ENST00000646777.1:n.404C>T | ||
| ENST00000647016.1:n.708C>T | ||
| ENST00000647152.1:c.-355C>T | ENSP00000495893.1:n.-355C>T | |
| ENST00000647209.1:c.*244C>T | ENSP00000495558.1:n.*244C>T | |
| ENST00000647346.1:n.1395C>T | ||
| ENST00000299427.10:c.375C>T | ENSP00000299427.6:p.Ser125= | |
| ENST00000428886.6:n.397C>T | ||
| ENST00000436873.6:c.375C>T | ENSP00000398136.2:p.Ser125= | |
| ENST00000528571.5:c.*115C>T | ENSP00000434647.1:n.*115C>T | |
| ENST00000530040.1:n.487C>T | ||
| ENST00000533371.5:c.-355C>T | ENSP00000437066.1:n.-355C>T | |
| ENST00000534644.5:n.360C>T | ||
| ENST00000611494.4:c.375C>T | ENSP00000484546.1:p.Ser125= | |
| NM_000391.3:c.375C>T | NP_000382.3:p.Ser125= | |
| NM_000391.4:c.375C>T MANE Select | NP_000382.3:p.Ser125= |