Linked Data
ClinVar Variation Id:
7216
ClinVar RCV Id:
RCV000007637
dbSNP Id:
rs121909040
gnomAD v2:
7-117282520-G-A
gnomAD v3:
7-117642466-G-A
gnomAD v4:
7-117642466-G-A
PubMed:
PMID:7520022
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642466G>A , CM000669.2:g.117642466G>A | GRCh38 |
| NC_000007.13:g.117282520G>A , CM000669.1:g.117282520G>A | GRCh37 |
| NC_000007.12:g.117069756G>A | NCBI36 |
| NG_016465.4:g.181683G>A , LRG_663:g.181683G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3546G>A | ENSP00000497673.2:p.Arg1182= | |
| ENST00000647978.2:c.*3460G>A | ENSP00000497658.1:n.*3460G>A | |
| ENST00000649781.2:c.3563G>A | ENSP00000497203.1:p.Gly1188Glu | |
| ENST00000685018.2:c.3746G>A | ENSP00000510194.2:p.Gly1249Glu | |
| ENST00000687278.2:c.*399G>A | ENSP00000509593.2:n.*399G>A | |
| ENST00000699585.1:c.3546G>A | ENSP00000514456.1:p.Arg1182= | |
| ENST00000699598.1:c.3746G>A | ENSP00000514467.1:p.Gly1249Glu | |
| ENST00000699599.1:c.3746G>A | ENSP00000514468.1:p.Gly1249Glu | |
| ENST00000699600.1:c.*407G>A | ENSP00000514469.1:n.*407G>A | |
| ENST00000699601.1:c.*2121G>A | ENSP00000514470.1:n.*2121G>A | |
| ENST00000699602.1:c.3740G>A | ENSP00000514471.1:p.Gly1247Glu | |
| ENST00000699604.1:c.*3570G>A | ENSP00000514472.1:n.*3570G>A | |
| ENST00000699605.1:c.3320G>A | ENSP00000514473.1:p.Gly1107Glu | |
| ENST00000685018.1:c.494G>A | ENSP00000510194.1:p.Gly165Glu | |
| ENST00000687278.1:c.1533G>A | ENSP00000509593.1:n.1533G>A | |
| ENST00000689011.1:c.328G>A | ||
| ENST00000003084.11:c.3746G>A MANE Select | ENSP00000003084.6:p.Gly1249Glu | |
| ENST00000647720.1:c.1196G>A | ||
| ENST00000649781.1:c.3563G>A | ENSP00000497203.1:p.Gly1188Glu | |
| ENST00000003084.10:c.3746G>A | ENSP00000003084.6:p.Gly1249Glu | |
| ENST00000426809.5:c.3656G>A | ENSP00000389119.1:p.Gly1219Glu | |
| NM_000492.3:c.3746G>A , LRG_663t1:c.3746G>A | NP_000483.3:p.Gly1249Glu | |
| XM_011515751.1:c.3836G>A | XP_011514053.1:p.Gly1279Glu | |
| XM_011515752.1:c.3836G>A | XP_011514054.1:p.Gly1279Glu | |
| XM_011515753.1:c.3503G>A | XP_011514055.1:p.Gly1168Glu | |
| XM_011515754.1:c.3503G>A | XP_011514056.1:p.Gly1168Glu | |
| NM_000492.4:c.3746G>A MANE Select | NP_000483.3:p.Gly1249Glu |