Linked Data
ClinVar Variation Id:
246368
dbSNP Id:
rs879254225
gnomAD v3:
3-10149901-A-G
gnomAD v4:
3-10149901-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.10149901A>G , CM000665.2:g.10149901A>G | GRCh38 |
| NC_000003.11:g.10191585A>G , CM000665.1:g.10191585A>G | GRCh37 |
| NC_000003.10:g.10166585A>G | NCBI36 |
| NG_008212.3:g.13267A>G , LRG_322:g.13267A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000696142.1:c.*255A>G | ENSP00000512434.1:n.*255A>G | |
| ENST00000696143.1:c.714A>G | ENSP00000512435.1:n.714A>G | |
| ENST00000696153.1:c.689A>G | ENSP00000512444.1:p.Asn230Ser | |
| ENST00000256474.3:c.578A>G MANE Select | ENSP00000256474.3:p.Asn193Ser | |
| ENST00000256474.2:c.578A>G | ENSP00000256474.2:p.Asn193Ser | |
| ENST00000345392.2:c.455A>G | ENSP00000344757.2:p.Asn152Ser | |
| ENST00000477538.1:n.714A>G | ||
| NM_000551.3:c.578A>G , LRG_322t1:c.578A>G | NP_000542.1:p.Asn193Ser | |
| NM_198156.2:c.455A>G | NP_937799.1:p.Asn152Ser | |
| NM_001354723.1:c.*132A>G | NP_001341652.1:n.*132A>G | |
| NM_000551.4:c.578A>G MANE Select | NP_000542.1:p.Asn193Ser | |
| NM_001354723.2:c.*132A>G | NP_001341652.1:n.*132A>G | |
| NM_198156.3:c.455A>G | NP_937799.1:p.Asn152Ser |