Linked Data
ClinVar Variation Id:
940047
ClinVar RCV Id:
RCV001209550
dbSNP Id:
rs1230170822
gnomAD v3:
11-6616666-C-T
gnomAD v4:
11-6616666-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.6616666C>T , CM000673.2:g.6616666C>T | GRCh38 |
| NC_000011.9:g.6637897C>T , CM000673.1:g.6637897C>T | GRCh37 |
| NC_000011.8:g.6594473C>T | NCBI36 |
| NG_008653.1:g.7796G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682424.1:c.767G>A | ENSP00000507321.1:p.Ser256Asn | |
| ENST00000299427.12:c.881G>A MANE Select | ENSP00000299427.6:p.Ser294Asn | |
| ENST00000436873.7:c.313-592G>A | ||
| ENST00000524788.2:n.2040G>A | ||
| ENST00000524903.2:n.2156G>A | ||
| ENST00000528807.2:n.537G>A | ||
| ENST00000530040.2:n.480-163G>A | ||
| ENST00000533371.6:c.152G>A | ENSP00000437066.1:p.Ser51Asn | |
| ENST00000642892.1:c.152G>A | ENSP00000494165.1:p.Ser51Asn | |
| ENST00000643439.1:c.*621G>A | ENSP00000495849.1:n.*621G>A | |
| ENST00000643479.1:n.910G>A | ||
| ENST00000643516.1:c.396-163G>A | ||
| ENST00000644151.1:n.2320G>A | ||
| ENST00000644218.1:c.881G>A | ENSP00000493574.1:p.Ser294Asn | |
| ENST00000644683.1:c.*334G>A | ENSP00000494085.1:n.*334G>A | |
| ENST00000644810.1:c.602G>A | ENSP00000495895.1:p.Ser201Asn | |
| ENST00000644831.1:n.1057G>A | ||
| ENST00000644933.1:c.152G>A | ENSP00000496133.1:p.Ser51Asn | |
| ENST00000645020.1:n.2171G>A | ||
| ENST00000645285.1:c.152G>A | ENSP00000495058.1:p.Ser51Asn | |
| ENST00000645331.1:n.1247G>A | ||
| ENST00000645620.1:c.152G>A | ENSP00000493657.1:p.Ser51Asn | |
| ENST00000646777.1:n.1057G>A | ||
| ENST00000647016.1:n.1361G>A | ||
| ENST00000647152.1:c.152G>A | ENSP00000495893.1:p.Ser51Asn | |
| ENST00000647209.1:c.*750G>A | ENSP00000495558.1:n.*750G>A | |
| ENST00000647346.1:n.1901G>A | ||
| ENST00000299427.10:c.881G>A | ENSP00000299427.6:p.Ser294Asn | |
| ENST00000436873.6:c.451-163G>A | ENSP00000398136.2:n.451-163G>A | |
| ENST00000528807.1:n.431G>A | ||
| ENST00000533371.5:c.152G>A | ENSP00000437066.1:p.Ser51Asn | |
| ENST00000611494.4:c.881G>A | ENSP00000484546.1:p.Ser294Asn | |
| NM_000391.3:c.881G>A | NP_000382.3:p.Ser294Asn | |
| NM_000391.4:c.881G>A MANE Select | NP_000382.3:p.Ser294Asn |