Linked Data
dbSNP Id:
rs1448293940
gnomAD v2:
3-47041821-A-G
gnomAD v3:
3-47000331-A-G
gnomAD v4:
3-47000331-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.47000331A>G , CM000665.2:g.47000331A>G | GRCh38 |
| NC_000003.11:g.47041821A>G , CM000665.1:g.47041821A>G | GRCh37 |
| NC_000003.10:g.47016825A>G | NCBI36 |
| NG_031914.1:g.25649A>G , LRG_568:g.25649A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450053.8:c.4232A>G MANE Select | ENSP00000415034.2:p.Asn1411Ser | |
| ENST00000651747.1:c.4130A>G | ENSP00000499216.1:p.Asn1377Ser | |
| ENST00000416683.5:c.2095A>G | ||
| ENST00000450053.7:c.4232A>G | ENSP00000415034.2:p.Asn1411Ser | |
| NM_015175.2:c.4232A>G , LRG_568t1:c.4232A>G | NP_055990.1:p.Asn1411Ser | |
| XM_005264992.2:c.4130A>G | XP_005265049.1:p.Asn1377Ser | |
| XM_005264993.2:c.704A>G | XP_005265050.1:p.Asn235Ser | |
| XM_006713072.2:c.4151A>G | XP_006713135.1:p.Asn1384Ser | |
| XM_011533532.1:c.4211A>G | XP_011531834.1:p.Asn1404Ser | |
| XM_011533533.1:c.4232A>G | XP_011531835.1:p.Asn1411Ser | |
| XM_011533534.1:c.3863A>G | XP_011531836.1:p.Asn1288Ser | |
| XM_011533535.1:c.3692A>G | XP_011531837.1:p.Asn1231Ser | |
| XM_011533536.1:c.3578A>G | XP_011531838.1:p.Asn1193Ser | |
| XM_011533537.1:c.3140A>G | XP_011531839.1:p.Asn1047Ser | |
| XR_940397.1:n.4408A>G | ||
| XR_940398.1:n.4408A>G | ||
| NM_001365116.1:c.4130A>G | NP_001352045.1:p.Asn1377Ser | |
| XM_006713072.3:c.4151A>G | XP_006713135.1:p.Asn1384Ser | |
| XM_011533533.2:c.4232A>G | XP_011531835.1:p.Asn1411Ser | |
| XM_017006010.1:c.4232A>G | XP_016861499.1:p.Asn1411Ser | |
| XM_017006011.1:c.4211A>G | XP_016861500.1:p.Asn1404Ser | |
| XM_017006012.1:c.4151A>G | XP_016861501.1:p.Asn1384Ser | |
| XM_017006013.1:c.4232A>G | XP_016861502.1:p.Asn1411Ser | |
| XM_017006014.1:c.4130A>G | XP_016861503.1:p.Asn1377Ser | |
| XM_017006015.1:c.3863A>G | XP_016861504.1:p.Asn1288Ser | |
| XM_017006016.1:c.3692A>G | XP_016861505.1:p.Asn1231Ser | |
| XM_017006017.1:c.704A>G | XP_016861506.1:p.Asn235Ser | |
| XR_940397.2:n.4408A>G | ||
| NM_001365116.2:c.4130A>G | NP_001352045.1:p.Asn1377Ser | |
| NM_015175.3:c.4232A>G MANE Select | NP_055990.1:p.Asn1411Ser |