Linked Data
ClinVar Variation Id:
464105
dbSNP Id:
rs148329626
ExAC:
9:35061169 T / C
gnomAD v2:
9-35061169-T-C
gnomAD v3:
9-35061172-T-C
gnomAD v4:
9-35061172-T-C
COSMIC:
COSM1270181
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.35061172T>C , CM000671.2:g.35061172T>C | GRCh38 |
| NC_000009.11:g.35061169T>C , CM000671.1:g.35061169T>C | GRCh37 |
| NC_000009.10:g.35051169T>C | NCBI36 |
| NG_007887.1:g.16571A>G , LRG_657:g.16571A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000358901.11:c.1202A>G MANE Select | ENSP00000351777.6:p.Asn401Ser | |
| ENST00000417448.2:c.1067A>G | ENSP00000399456.2:p.Asn356Ser | |
| ENST00000448530.6:c.1067A>G | ENSP00000392088.2:p.Asn356Ser | |
| ENST00000480327.2:n.1340A>G | ||
| ENST00000676836.2:n.1945A>G | ||
| ENST00000677257.1:c.1196A>G | ENSP00000504354.1:p.Asn399Ser | |
| ENST00000678018.1:c.*1173A>G | ENSP00000503811.1:n.*1173A>G | |
| ENST00000678465.1:c.*214A>G | ENSP00000504259.1:n.*214A>G | |
| ENST00000678650.1:c.1067A>G | ENSP00000503426.1:p.Asn356Ser | |
| ENST00000679204.2:c.1202A>G | ENSP00000503131.2:p.Asn401Ser | |
| ENST00000679599.1:n.1472A>G | ||
| ENST00000679647.1:c.1202A>G | ENSP00000506216.1:p.Asn401Ser | |
| ENST00000679800.1:n.1601A>G | ||
| ENST00000679862.1:c.1067A>G | ENSP00000504990.1:p.Asn356Ser | |
| ENST00000679902.1:c.1202A>G | ENSP00000506338.1:p.Asn401Ser | |
| ENST00000680834.1:c.552A>G | ||
| ENST00000680916.1:c.1202A>G | ENSP00000505769.1:p.Asn401Ser | |
| ENST00000681125.1:c.284A>G | ||
| ENST00000681335.1:c.1202A>G | ENSP00000505230.1:p.Asn401Ser | |
| ENST00000681690.1:n.1474A>G | ||
| ENST00000358901.10:c.1202A>G | ENSP00000351777.6:p.Asn401Ser | |
| ENST00000480327.1:n.62A>G | ||
| ENST00000493886.5:n.1476A>G | ||
| NM_007126.3:c.1202A>G , LRG_657t1:c.1202A>G | NP_009057.1:p.Asn401Ser | |
| NM_001354927.1:c.1067A>G | NP_001341856.1:p.Asn356Ser | |
| NM_001354928.1:c.1067A>G | NP_001341857.1:p.Asn356Ser | |
| NM_007126.4:c.1202A>G | NP_009057.1:p.Asn401Ser | |
| NM_007126.5:c.1202A>G MANE Select | NP_009057.1:p.Asn401Ser | |
| NM_001354927.2:c.1067A>G | NP_001341856.1:p.Asn356Ser | |
| NM_001354928.2:c.1067A>G | NP_001341857.1:p.Asn356Ser |