Linked Data
ClinVar Variation Id:
205379
dbSNP Id:
rs773385237
ExAC:
6:52344502 C / T
gnomAD v2:
6-52344502-C-T
gnomAD v3:
6-52479704-C-T
gnomAD v4:
6-52479704-C-T
COSMIC:
COSM3628511
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.52479704C>T , CM000668.2:g.52479704C>T | GRCh38 |
| NC_000006.11:g.52344502C>T , CM000668.1:g.52344502C>T | GRCh37 |
| NC_000006.10:g.52452461C>T | NCBI36 |
| NG_016760.1:g.64509C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000371068.11:c.1557C>T MANE Select | ENSP00000360107.4:p.Asn519= | |
| ENST00000480623.6:c.1557C>T | ENSP00000434498.2:p.Asn519= | |
| ENST00000635760.1:c.1233C>T | ENSP00000489765.1:p.Asn411= | |
| ENST00000635812.1:c.*858C>T | ENSP00000490859.1:n.*858C>T | |
| ENST00000635866.1:c.*1426C>T | ENSP00000489866.1:n.*1426C>T | |
| ENST00000635911.1:n.3075C>T | ||
| ENST00000635984.1:c.1233C>T | ENSP00000489921.1:p.Asn411= | |
| ENST00000635996.1:c.1557C>T | ENSP00000490256.1:p.Asn519= | |
| ENST00000636107.1:c.1557C>T | ENSP00000489680.1:p.Asn519= | |
| ENST00000636311.1:n.1451C>T | ||
| ENST00000636343.1:c.1223C>T | ||
| ENST00000636379.1:c.1269C>T | ENSP00000490622.1:p.Asn423= | |
| ENST00000636398.1:c.1257C>T | ENSP00000489654.1:n.1257C>T | |
| ENST00000636489.1:c.1500C>T | ENSP00000489998.1:p.Asn500= | |
| ENST00000636616.1:n.1118C>T | ||
| ENST00000636702.1:c.1527C>T | ENSP00000489623.1:p.Asn509= | |
| ENST00000636954.1:c.1500C>T | ENSP00000489966.1:p.Asn500= | |
| ENST00000637089.1:c.1557C>T | ENSP00000489854.1:p.Asn519= | |
| ENST00000637121.1:n.1359C>T | ||
| ENST00000637263.1:c.1557C>T | ENSP00000489700.1:p.Asn519= | |
| ENST00000637340.1:n.3482C>T | ||
| ENST00000637353.1:c.1557C>T | ENSP00000490441.1:p.Asn519= | |
| ENST00000637602.1:c.*1258C>T | ENSP00000490074.1:n.*1258C>T | |
| ENST00000637849.1:n.1621C>T | ||
| ENST00000637892.1:n.1761C>T | ||
| ENST00000371068.9:c.1557C>T | ENSP00000360107.4:p.Asn519= | |
| ENST00000480623.5:c.*1977C>T | ENSP00000434498.1:n.*1977C>T | |
| ENST00000538167.2:c.1500C>T | ENSP00000444521.1:p.Asn500= | |
| NM_001172420.1:c.1500C>T | NP_001165891.1:p.Asn500= | |
| NM_018100.3:c.1557C>T | NP_060570.2:p.Asn519= | |
| NR_033327.1:n.3029C>T | ||
| NM_018100.4:c.1557C>T MANE Select | NP_060570.2:p.Asn519= | |
| NM_001172420.2:c.1500C>T | NP_001165891.1:p.Asn500= | |
| NR_033327.2:n.2883C>T |