Linked Data
ClinVar Variation Id:
287376
dbSNP Id:
rs115475262
ExAC:
6:52355117 A / G
gnomAD v2:
6-52355117-A-G
gnomAD v3:
6-52490319-A-G
gnomAD v4:
6-52490319-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52490319A>G , CM000668.2:g.52490319A>G | GRCh38 |
| NC_000006.11:g.52355117A>G , CM000668.1:g.52355117A>G | GRCh37 |
| NC_000006.10:g.52463076A>G | NCBI36 |
| NG_016760.1:g.75124A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1820A>G MANE Select | ENSP00000360107.4:p.Asn607Ser | |
| ENST00000480623.6:c.*376A>G | ENSP00000434498.2:n.*376A>G | |
| ENST00000481466.2:n.205A>G | ||
| ENST00000635760.1:c.1496A>G | ENSP00000489765.1:p.Asn499Ser | |
| ENST00000635866.1:c.*1689A>G | ENSP00000489866.1:n.*1689A>G | |
| ENST00000635911.1:n.3338A>G | ||
| ENST00000635996.1:c.1820A>G | ENSP00000490256.1:p.Asn607Ser | |
| ENST00000636311.1:n.1714A>G | ||
| ENST00000636343.1:c.1486A>G | ||
| ENST00000636379.1:c.1532A>G | ENSP00000490622.1:p.Asn511Ser | |
| ENST00000636398.1:c.1520A>G | ENSP00000489654.1:n.1520A>G | |
| ENST00000636489.1:c.1763A>G | ENSP00000489998.1:p.Asn588Ser | |
| ENST00000636616.1:n.1381A>G | ||
| ENST00000636702.1:c.1790A>G | ENSP00000489623.1:p.Asn597Ser | |
| ENST00000636954.1:c.1763A>G | ENSP00000489966.1:p.Asn588Ser | |
| ENST00000637089.1:c.1820A>G | ENSP00000489854.1:p.Asn607Ser | |
| ENST00000637121.1:n.1622A>G | ||
| ENST00000637340.1:n.3745A>G | ||
| ENST00000637353.1:c.1820A>G | ENSP00000490441.1:p.Asn607Ser | |
| ENST00000637602.1:c.*1521A>G | ENSP00000490074.1:n.*1521A>G | |
| ENST00000371068.9:c.1820A>G | ENSP00000360107.4:p.Asn607Ser | |
| ENST00000480623.5:c.*2240A>G | ENSP00000434498.1:n.*2240A>G | |
| ENST00000481466.1:n.299A>G | ||
| ENST00000538167.2:c.1763A>G | ENSP00000444521.1:p.Asn588Ser | |
| NM_001172420.1:c.1763A>G | NP_001165891.1:p.Asn588Ser | |
| NM_018100.3:c.1820A>G | NP_060570.2:p.Asn607Ser | |
| NR_033327.1:n.3292A>G | ||
| NM_018100.4:c.1820A>G MANE Select | NP_060570.2:p.Asn607Ser | |
| NM_001172420.2:c.1763A>G | NP_001165891.1:p.Asn588Ser | |
| NR_033327.2:n.3146A>G |