Linked Data
ClinVar Variation Id:
261117
dbSNP Id:
rs1135809
ExAC:
6:32010732 T / G
gnomAD v2:
6-32010732-T-G
gnomAD v3:
6-32042955-T-G
gnomAD v4:
6-32042955-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.32042955T>G , CM000668.2:g.32042955T>G | GRCh38 |
| NC_000006.11:g.32010732T>G , CM000668.1:g.32010732T>G | GRCh37 |
| NC_000006.10:g.32118711T>G | NCBI36 |
| NG_007941.2:g.9648T>G | |
| NG_008337.2:g.71420A>C | |
| NG_007941.3:g.9651T>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000644971.2:c.11921A>C MANE Select | ENSP00000496448.1:p.Asn3974Thr | |
| ENST00000647633.1:c.12662A>C | ENSP00000497649.1:p.Asn4221Thr | |
| ENST00000375244.7:c.11921A>C | ENSP00000364393.3:p.Asn3974Thr | |
| ENST00000451343.4:c.1208A>C | ENSP00000407685.1:p.Asn403Thr | |
| ENST00000490077.5:n.1748A>C | ||
| ENST00000498094.1:n.287A>C | ||
| ENST00000611016.2:c.5075A>C | ENSP00000483409.1:p.Asn1692Thr | |
| NM_019105.6:c.11915A>C | NP_061978.6:p.Asn3972Thr | |
| NM_032470.3:c.1208A>C | NP_115859.2:p.Asn403Thr | |
| NM_001365276.1:c.11921A>C | NP_001352205.1:p.Asn3974Thr | |
| NM_019105.7:c.11915A>C | NP_061978.6:p.Asn3972Thr | |
| NM_001365276.2:c.11921A>C MANE Select | NP_001352205.1:p.Asn3974Thr | |
| NM_019105.8:c.11915A>C | NP_061978.6:p.Asn3972Thr | |
| NM_032470.4:c.1208A>C | NP_115859.2:p.Asn403Thr |