Linked Data
ClinVar Variation Id:
2899858
ClinVar RCV Id:
RCV003618910
dbSNP Id:
rs200174447
gnomAD v4:
7-117642485-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642485A>G , CM000669.2:g.117642485A>G | GRCh38 |
| NC_000007.13:g.117282539A>G , CM000669.1:g.117282539A>G | GRCh37 |
| NC_000007.12:g.117069775A>G | NCBI36 |
| NG_016465.4:g.181702A>G , LRG_663:g.181702A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3565A>G | ENSP00000497673.2:p.Ser1189Gly | |
| ENST00000647978.2:c.*3479A>G | ENSP00000497658.1:n.*3479A>G | |
| ENST00000649781.2:c.3582A>G | ENSP00000497203.1:p.Ser1194= | |
| ENST00000685018.2:c.3765A>G | ENSP00000510194.2:p.Ser1255= | |
| ENST00000687278.2:c.*418A>G | ENSP00000509593.2:n.*418A>G | |
| ENST00000699585.1:c.3565A>G | ENSP00000514456.1:p.Ser1189Gly | |
| ENST00000699598.1:c.3765A>G | ENSP00000514467.1:p.Ser1255= | |
| ENST00000699599.1:c.3765A>G | ENSP00000514468.1:p.Ser1255= | |
| ENST00000699600.1:c.*426A>G | ENSP00000514469.1:n.*426A>G | |
| ENST00000699601.1:c.*2140A>G | ENSP00000514470.1:n.*2140A>G | |
| ENST00000699602.1:c.3759A>G | ENSP00000514471.1:p.Ser1253= | |
| ENST00000699604.1:c.*3589A>G | ENSP00000514472.1:n.*3589A>G | |
| ENST00000699605.1:c.3339A>G | ENSP00000514473.1:p.Ser1113= | |
| ENST00000685018.1:c.513A>G | ENSP00000510194.1:p.Ser171= | |
| ENST00000687278.1:c.1552A>G | ENSP00000509593.1:n.1552A>G | |
| ENST00000689011.1:c.347A>G | ||
| ENST00000003084.11:c.3765A>G MANE Select | ENSP00000003084.6:p.Ser1255= | |
| ENST00000647720.1:c.1215A>G | ||
| ENST00000649781.1:c.3582A>G | ENSP00000497203.1:p.Ser1194= | |
| ENST00000003084.10:c.3765A>G | ENSP00000003084.6:p.Ser1255= | |
| ENST00000426809.5:c.3675A>G | ENSP00000389119.1:p.Ser1225= | |
| NM_000492.3:c.3765A>G , LRG_663t1:c.3765A>G | NP_000483.3:p.Ser1255= | |
| XM_011515751.1:c.3855A>G | XP_011514053.1:p.Ser1285= | |
| XM_011515752.1:c.3855A>G | XP_011514054.1:p.Ser1285= | |
| XM_011515753.1:c.3522A>G | XP_011514055.1:p.Ser1174= | |
| XM_011515754.1:c.3522A>G | XP_011514056.1:p.Ser1174= | |
| NM_000492.4:c.3765A>G MANE Select | NP_000483.3:p.Ser1255= |