Linked Data
ClinVar Variation Id:
93157
dbSNP Id:
rs1800136
ExAC:
7:117307108 G / A
gnomAD v2:
7-117307108-G-A
gnomAD v3:
7-117667054-G-A
gnomAD v4:
7-117667054-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117667054G>A , CM000669.2:g.117667054G>A | GRCh38 |
| NC_000007.13:g.117307108G>A , CM000669.1:g.117307108G>A | GRCh37 |
| NC_000007.12:g.117094344G>A | NCBI36 |
| NG_016465.4:g.206271G>A , LRG_663:g.206271G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*598G>A | ENSP00000497673.2:n.*598G>A | |
| ENST00000647978.2:c.*4103G>A | ENSP00000497658.1:n.*4103G>A | |
| ENST00000649781.2:c.4206G>A | ENSP00000497203.1:p.Gln1402= | |
| ENST00000685018.2:c.*602G>A | ENSP00000510194.2:n.*602G>A | |
| ENST00000687278.2:c.*896-548G>A | ENSP00000509593.2:n.*896-548G>A | |
| ENST00000699585.1:c.*858G>A | ENSP00000514456.1:n.*858G>A | |
| ENST00000699598.1:c.*95G>A | ENSP00000514467.1:n.*95G>A | |
| ENST00000699599.1:c.*602G>A | ENSP00000514468.1:n.*602G>A | |
| ENST00000699600.1:c.*904-548G>A | ENSP00000514469.1:n.*904-548G>A | |
| ENST00000699601.1:c.*2764G>A | ENSP00000514470.1:n.*2764G>A | |
| ENST00000699602.1:c.4383G>A | ENSP00000514471.1:p.Gln1461= | |
| ENST00000699604.1:c.*4213G>A | ENSP00000514472.1:n.*4213G>A | |
| ENST00000699605.1:c.3963G>A | ENSP00000514473.1:p.Gln1321= | |
| ENST00000699606.1:n.3900G>A | ||
| ENST00000685018.1:c.1253G>A | ENSP00000510194.1:n.1253G>A | |
| ENST00000687278.1:c.2030-548G>A | ENSP00000509593.1:n.2030-548G>A | |
| ENST00000689011.1:c.1231G>A | ||
| ENST00000003084.11:c.4389G>A MANE Select | ENSP00000003084.6:p.Gln1463= | |
| ENST00000647720.1:c.1839G>A | ||
| ENST00000649781.1:c.4206G>A | ENSP00000497203.1:p.Gln1402= | |
| ENST00000003084.10:c.4389G>A | ENSP00000003084.6:p.Gln1463= | |
| ENST00000426809.5:c.4299G>A | ENSP00000389119.1:p.Gln1433= | |
| ENST00000600166.1:c.368+1490G>A | ||
| NM_000492.3:c.4389G>A , LRG_663t1:c.4389G>A | NP_000483.3:p.Gln1463= | |
| XM_011515751.1:c.4479G>A | XP_011514053.1:p.Gln1493= | |
| XM_011515753.1:c.4146G>A | XP_011514055.1:p.Gln1382= | |
| XM_011515754.1:c.4146G>A | XP_011514056.1:p.Gln1382= | |
| NM_000492.4:c.4389G>A MANE Select | NP_000483.3:p.Gln1463= |