Linked Data
ClinVar Variation Id:
993502
ClinVar RCV Id:
RCV001812327
dbSNP Id:
rs1470463698
gnomAD v2:
11-68685211-A-G
gnomAD v4:
11-68917743-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.68917743A>G , CM000673.2:g.68917743A>G | GRCh38 |
| NC_000011.9:g.68685211A>G , CM000673.1:g.68685211A>G | GRCh37 |
| NC_000011.8:g.68441787A>G | NCBI36 |
| NG_007976.1:g.18893A>G , LRG_250:g.18893A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000255078.8:c.920A>G MANE Select | ENSP00000255078.4:p.Asn307Ser | |
| ENST00000539224.2:c.1049A>G | ||
| ENST00000674745.1:c.8A>G | ENSP00000502738.1:p.Asn3Ser | |
| ENST00000674775.1:n.8A>G | ||
| ENST00000674955.1:c.920A>G | ENSP00000502463.1:p.Asn307Ser | |
| ENST00000675118.1:c.408A>G | ||
| ENST00000675119.1:c.347A>G | ENSP00000501861.1:n.347A>G | |
| ENST00000675305.1:c.240A>G | ENSP00000502365.1:n.240A>G | |
| ENST00000675464.1:c.203A>G | ENSP00000502650.1:p.Asn68Ser | |
| ENST00000675493.1:n.8A>G | ||
| ENST00000675615.1:c.920A>G | ENSP00000502413.1:p.Asn307Ser | |
| ENST00000675648.1:n.295A>G | ||
| ENST00000675683.1:c.307A>G | ||
| ENST00000675684.1:c.8A>G | ENSP00000502192.1:p.Asn3Ser | |
| ENST00000676173.1:n.964A>G | ||
| ENST00000676228.1:c.*243A>G | ENSP00000502375.1:n.*243A>G | |
| ENST00000255078.7:c.920A>G | ENSP00000255078.3:p.Asn307Ser | |
| NM_002180.2:c.920A>G , LRG_250t1:c.920A>G | NP_002171.2:p.Asn307Ser | |
| XM_005273974.2:c.-92A>G | XP_005274031.1:n.-92A>G | |
| XM_005273976.1:c.920A>G | XP_005274033.1:p.Asn307Ser | |
| XR_247198.1:n.1022A>G | ||
| XR_949903.1:n.1022A>G | ||
| XM_005273976.2:c.920A>G | XP_005274033.1:p.Asn307Ser | |
| XM_017017669.2:c.-92A>G | XP_016873158.1:n.-92A>G | |
| XM_017017670.2:c.-92A>G | XP_016873159.1:n.-92A>G | |
| XM_017017671.2:c.920A>G | XP_016873160.1:p.Asn307Ser | |
| XR_949903.3:n.1018A>G | ||
| NM_002180.3:c.920A>G MANE Select | NP_002171.2:p.Asn307Ser |