Linked Data
ClinVar Variation Id:
48674
dbSNP Id:
rs121908763
ExAC:
7:117267694 C / G
gnomAD v2:
7-117267694-C-G
gnomAD v4:
7-117627640-C-G
PubMed:
PMID:23974870
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627640C>G , CM000669.2:g.117627640C>G | GRCh38 |
| NC_000007.13:g.117267694C>G , CM000669.1:g.117267694C>G | GRCh37 |
| NC_000007.12:g.117054930C>G | NCBI36 |
| NG_016465.4:g.166857C>G , LRG_663:g.166857C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3517+70C>G | ENSP00000497673.2:n.3517+70C>G | |
| ENST00000647978.2:c.*3301C>G | ENSP00000497658.1:n.*3301C>G | |
| ENST00000649781.2:c.3404C>G | ENSP00000497203.1:p.Ser1135Ter | |
| ENST00000685018.2:c.3587C>G | ENSP00000510194.2:p.Ser1196Ter | |
| ENST00000687278.2:c.*240C>G | ENSP00000509593.2:n.*240C>G | |
| ENST00000699585.1:c.3517+70C>G | ENSP00000514456.1:n.3517+70C>G | |
| ENST00000699598.1:c.3587C>G | ENSP00000514467.1:p.Ser1196Ter | |
| ENST00000699599.1:c.3587C>G | ENSP00000514468.1:p.Ser1196Ter | |
| ENST00000699600.1:c.*248C>G | ENSP00000514469.1:n.*248C>G | |
| ENST00000699601.1:c.*1962C>G | ENSP00000514470.1:n.*1962C>G | |
| ENST00000699602.1:c.3581C>G | ENSP00000514471.1:p.Ser1194Ter | |
| ENST00000699604.1:c.*3411C>G | ENSP00000514472.1:n.*3411C>G | |
| ENST00000699605.1:c.3161C>G | ENSP00000514473.1:p.Ser1054Ter | |
| ENST00000685018.1:c.335C>G | ENSP00000510194.1:p.Ser112Ter | |
| ENST00000687278.1:c.1374C>G | ENSP00000509593.1:n.1374C>G | |
| ENST00000689011.1:c.169C>G | ||
| ENST00000003084.11:c.3587C>G MANE Select | ENSP00000003084.6:p.Ser1196Ter | |
| ENST00000647720.1:c.1167+70C>G | ||
| ENST00000648260.1:c.2369C>G | ENSP00000497957.1:p.Ser790Ter | |
| ENST00000649406.1:c.3404C>G | ENSP00000497965.1:p.Ser1135Ter | |
| ENST00000649781.1:c.3404C>G | ENSP00000497203.1:p.Ser1135Ter | |
| ENST00000003084.10:c.3587C>G | ENSP00000003084.6:p.Ser1196Ter | |
| ENST00000426809.5:c.3497C>G | ENSP00000389119.1:p.Ser1166Ter | |
| ENST00000468795.1:c.412C>G | ||
| NM_000492.3:c.3587C>G , LRG_663t1:c.3587C>G | NP_000483.3:p.Ser1196Ter | |
| XM_011515751.1:c.3677C>G | XP_011514053.1:p.Ser1226Ter | |
| XM_011515752.1:c.3677C>G | XP_011514054.1:p.Ser1226Ter | |
| XM_011515753.1:c.3344C>G | XP_011514055.1:p.Ser1115Ter | |
| XM_011515754.1:c.3344C>G | XP_011514056.1:p.Ser1115Ter | |
| NM_000492.4:c.3587C>G MANE Select | NP_000483.3:p.Ser1196Ter |