Linked Data
ClinVar Variation Id:
7133
ClinVar RCV Id:
RCV000007553
dbSNP Id:
rs121909010
gnomAD v4:
7-117652915-G-A
PubMed:
PMID:2233965
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117652915G>A , CM000669.2:g.117652915G>A | GRCh38 |
| NC_000007.13:g.117292969G>A , CM000669.1:g.117292969G>A | GRCh37 |
| NC_000007.12:g.117080205G>A | NCBI36 |
| NG_016465.4:g.192132G>A , LRG_663:g.192132G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*156G>A | ENSP00000497673.2:n.*156G>A | |
| ENST00000647978.2:c.*3661G>A | ENSP00000497658.1:n.*3661G>A | |
| ENST00000649781.2:c.3764G>A | ENSP00000497203.1:p.Trp1255Ter | |
| ENST00000685018.2:c.*160G>A | ENSP00000510194.2:n.*160G>A | |
| ENST00000687278.2:c.*600G>A | ENSP00000509593.2:n.*600G>A | |
| ENST00000699585.1:c.*156G>A | ENSP00000514456.1:n.*156G>A | |
| ENST00000699598.1:c.3947G>A | ENSP00000514467.1:p.Trp1316Ter | |
| ENST00000699599.1:c.*160G>A | ENSP00000514468.1:n.*160G>A | |
| ENST00000699600.1:c.*608G>A | ENSP00000514469.1:n.*608G>A | |
| ENST00000699601.1:c.*2322G>A | ENSP00000514470.1:n.*2322G>A | |
| ENST00000699602.1:c.3941G>A | ENSP00000514471.1:p.Trp1314Ter | |
| ENST00000699604.1:c.*3771G>A | ENSP00000514472.1:n.*3771G>A | |
| ENST00000699605.1:c.3521G>A | ENSP00000514473.1:p.Trp1174Ter | |
| ENST00000699606.1:n.2115G>A | ||
| ENST00000685018.1:c.811G>A | ENSP00000510194.1:n.811G>A | |
| ENST00000687278.1:c.1734G>A | ENSP00000509593.1:n.1734G>A | |
| ENST00000689011.1:c.529G>A | ||
| ENST00000003084.11:c.3947G>A MANE Select | ENSP00000003084.6:p.Trp1316Ter | |
| ENST00000647720.1:c.1397G>A | ||
| ENST00000649781.1:c.3764G>A | ENSP00000497203.1:p.Trp1255Ter | |
| ENST00000003084.10:c.3947G>A | ENSP00000003084.6:p.Trp1316Ter | |
| ENST00000426809.5:c.3857G>A | ENSP00000389119.1:p.Trp1286Ter | |
| ENST00000600166.1:c.73G>A | ||
| NM_000492.3:c.3947G>A , LRG_663t1:c.3947G>A | NP_000483.3:p.Trp1316Ter | |
| XM_011515751.1:c.4037G>A | XP_011514053.1:p.Trp1346Ter | |
| XM_011515752.1:c.4037G>A | XP_011514054.1:p.Trp1346Ter | |
| XM_011515753.1:c.3704G>A | XP_011514055.1:p.Trp1235Ter | |
| XM_011515754.1:c.3704G>A | XP_011514056.1:p.Trp1235Ter | |
| NM_000492.4:c.3947G>A MANE Select | NP_000483.3:p.Trp1316Ter |