Linked Data
ClinVar Variation Id:
13184
ClinVar RCV Id:
RCV000014072
dbSNP Id:
rs121918379
gnomAD v2:
11-110102614-C-T
gnomAD v4:
11-110231889-C-T
PubMed:
PMID:17226784
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.110231889C>T , CM000673.2:g.110231889C>T | GRCh38 |
| NC_000011.9:g.110102614C>T , CM000673.1:g.110102614C>T | GRCh37 |
| NC_000011.8:g.109607824C>T | NCBI36 |
| NG_023044.1:g.69824G>A | |
| NG_023044.2:g.69824G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000645312.1:c.375G>A | ||
| ENST00000645495.2:c.1732G>A MANE Select | ENSP00000496503.2:p.Asp578Asn | |
| ENST00000645527.1:c.1587+1348G>A | ENSP00000496121.1:n.1587+1348G>A | |
| ENST00000646663.1:c.1732G>A | ENSP00000494693.1:p.Asp578Asn | |
| ENST00000647231.1:c.1732G>A | ENSP00000496414.1:p.Asp578Asn | |
| ENST00000343115.8:c.1732G>A | ENSP00000342830.4:p.Asp578Asn | |
| ENST00000405097.5:c.1732G>A | ENSP00000384136.1:p.Asp578Asn | |
| ENST00000527537.5:n.961G>A | ||
| ENST00000528498.5:c.1732G>A | ENSP00000432112.1:p.Asp578Asn | |
| ENST00000528900.5:c.691G>A | ENSP00000433580.1:p.Asp231Asn | |
| ENST00000530085.2:n.742G>A | ||
| ENST00000530131.5:c.*1202G>A | ENSP00000432829.1:n.*1202G>A | |
| ENST00000530301.5:c.520G>A | ENSP00000436277.1:p.Asp174Asn | |
| ENST00000530749.5:c.1732G>A | ENSP00000437301.1:p.Asp578Asn | |
| ENST00000532461.5:n.847G>A | ||
| ENST00000533961.1:n.432G>A | ||
| ENST00000544551.5:c.1324G>A | ENSP00000445826.1:p.Asp442Asn | |
| NM_001260492.1:c.1732G>A | NP_001247421.1:p.Asp578Asn | |
| NM_001260493.1:c.1732G>A | NP_001247422.1:p.Asp578Asn | |
| NM_001260494.1:c.1324G>A | NP_001247423.1:p.Asp442Asn | |
| NM_001260495.1:c.691G>A | NP_001247424.1:p.Asp231Asn | |
| NM_001260496.1:c.520G>A | NP_001247425.1:p.Asp174Asn | |
| NM_002906.3:c.1732G>A | NP_002897.1:p.Asp578Asn | |
| NM_001260492.2:c.1732G>A | NP_001247421.1:p.Asp578Asn | |
| NM_002906.4:c.1732G>A MANE Select | NP_002897.1:p.Asp578Asn | |
| NM_001260493.2:c.1732G>A | NP_001247422.1:p.Asp578Asn | |
| NM_001260494.2:c.1324G>A | NP_001247423.1:p.Asp442Asn | |
| NM_001260495.2:c.691G>A | NP_001247424.1:p.Asp231Asn | |
| NM_001260496.2:c.520G>A | NP_001247425.1:p.Asp174Asn |