Linked Data
ClinVar Variation Id:
379925
ClinVar RCV Id:
RCV000417773
dbSNP Id:
rs1057520789
gnomAD v4:
12-110343297-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.110343297A>G , CM000674.2:g.110343297A>G | GRCh38 |
| NC_000012.11:g.110781102A>G , CM000674.1:g.110781102A>G | GRCh37 |
| NC_000012.10:g.109265485A>G | NCBI36 |
| NG_007097.2:g.66671A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000539276.7:c.2384A>G MANE Select | ENSP00000440045.2:p.Asn795Ser | |
| ENST00000308664.10:c.2384A>G | ENSP00000311186.6:p.Asn795Ser | |
| ENST00000377685.9:c.*2224A>G | ENSP00000366913.4:n.*2224A>G | |
| ENST00000539276.6:c.2384A>G | ENSP00000440045.2:p.Asn795Ser | |
| ENST00000547792.1:n.42A>G | ||
| ENST00000548169.2:c.2055A>G | ||
| NM_001681.3:c.2384A>G | NP_001672.1:p.Asn795Ser | |
| NM_170665.3:c.2384A>G | NP_733765.1:p.Asn795Ser | |
| XM_005253888.1:c.2384A>G | XP_005253945.1:p.Asn795Ser | |
| XM_011538402.1:c.2384A>G | XP_011536704.1:p.Asn795Ser | |
| XM_011538403.1:c.2384A>G | XP_011536705.1:p.Asn795Ser | |
| XR_243009.1:n.2390A>G | ||
| XM_005253888.3:c.2384A>G | XP_005253945.1:p.Asn795Ser | |
| XM_011538402.3:c.2384A>G | XP_011536704.1:p.Asn795Ser | |
| XR_002957329.1:n.2390A>G | ||
| XR_243009.3:n.2390A>G | ||
| NM_170665.4:c.2384A>G MANE Select | NP_733765.1:p.Asn795Ser | |
| NM_001681.4:c.2384A>G | NP_001672.1:p.Asn795Ser |