Linked Data
ClinVar Variation Id:
53797
ClinVar RCV Id:
RCV000056386
RCV000211150
RCV000763160
RCV001004504
RCV003474587
RCV001831779
RCV002247437
dbSNP Id:
rs267606723
ExAC:
7:117282505 G / A
gnomAD v2:
7-117282505-G-A
gnomAD v3:
7-117642451-G-A
gnomAD v4:
7-117642451-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642451G>A , CM000669.2:g.117642451G>A | GRCh38 |
| NC_000007.13:g.117282505G>A , CM000669.1:g.117282505G>A | GRCh37 |
| NC_000007.12:g.117069741G>A | NCBI36 |
| NG_016465.4:g.181668G>A , LRG_663:g.181668G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3531G>A | ENSP00000497673.2:p.Gly1177= | |
| ENST00000647978.2:c.*3445G>A | ENSP00000497658.1:n.*3445G>A | |
| ENST00000649781.2:c.3548G>A | ENSP00000497203.1:p.Gly1183Glu | |
| ENST00000685018.2:c.3731G>A | ENSP00000510194.2:p.Gly1244Glu | |
| ENST00000687278.2:c.*384G>A | ENSP00000509593.2:n.*384G>A | |
| ENST00000699585.1:c.3531G>A | ENSP00000514456.1:p.Gly1177= | |
| ENST00000699598.1:c.3731G>A | ENSP00000514467.1:p.Gly1244Glu | |
| ENST00000699599.1:c.3731G>A | ENSP00000514468.1:p.Gly1244Glu | |
| ENST00000699600.1:c.*392G>A | ENSP00000514469.1:n.*392G>A | |
| ENST00000699601.1:c.*2106G>A | ENSP00000514470.1:n.*2106G>A | |
| ENST00000699602.1:c.3725G>A | ENSP00000514471.1:p.Gly1242Glu | |
| ENST00000699604.1:c.*3555G>A | ENSP00000514472.1:n.*3555G>A | |
| ENST00000699605.1:c.3305G>A | ENSP00000514473.1:p.Gly1102Glu | |
| ENST00000685018.1:c.479G>A | ENSP00000510194.1:p.Gly160Glu | |
| ENST00000687278.1:c.1518G>A | ENSP00000509593.1:n.1518G>A | |
| ENST00000689011.1:c.313G>A | ||
| ENST00000003084.11:c.3731G>A MANE Select | ENSP00000003084.6:p.Gly1244Glu | |
| ENST00000647720.1:c.1181G>A | ||
| ENST00000649781.1:c.3548G>A | ENSP00000497203.1:p.Gly1183Glu | |
| ENST00000003084.10:c.3731G>A | ENSP00000003084.6:p.Gly1244Glu | |
| ENST00000426809.5:c.3641G>A | ENSP00000389119.1:p.Gly1214Glu | |
| NM_000492.3:c.3731G>A , LRG_663t1:c.3731G>A | NP_000483.3:p.Gly1244Glu | |
| XM_011515751.1:c.3821G>A | XP_011514053.1:p.Gly1274Glu | |
| XM_011515752.1:c.3821G>A | XP_011514054.1:p.Gly1274Glu | |
| XM_011515753.1:c.3488G>A | XP_011514055.1:p.Gly1163Glu | |
| XM_011515754.1:c.3488G>A | XP_011514056.1:p.Gly1163Glu | |
| NM_000492.4:c.3731G>A MANE Select | NP_000483.3:p.Gly1244Glu |