Linked Data
ClinVar Variation Id:
497599
dbSNP Id:
rs368393738
ExAC:
7:117267624 G / A
gnomAD v2:
7-117267624-G-A
gnomAD v3:
7-117627570-G-A
gnomAD v4:
7-117627570-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627570G>A , CM000669.2:g.117627570G>A | GRCh38 |
| NC_000007.13:g.117267624G>A , CM000669.1:g.117267624G>A | GRCh37 |
| NC_000007.12:g.117054860G>A | NCBI36 |
| NG_016465.4:g.166787G>A , LRG_663:g.166787G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3517G>A | ENSP00000497673.2:p.Gly1173Ser | |
| ENST00000647978.2:c.*3231G>A | ENSP00000497658.1:n.*3231G>A | |
| ENST00000649781.2:c.3334G>A | ENSP00000497203.1:p.Gly1112Ser | |
| ENST00000685018.2:c.3517G>A | ENSP00000510194.2:p.Gly1173Ser | |
| ENST00000687278.2:c.*170G>A | ENSP00000509593.2:n.*170G>A | |
| ENST00000699585.1:c.3517G>A | ENSP00000514456.1:p.Gly1173Ser | |
| ENST00000699598.1:c.3517G>A | ENSP00000514467.1:p.Gly1173Ser | |
| ENST00000699599.1:c.3517G>A | ENSP00000514468.1:p.Gly1173Ser | |
| ENST00000699600.1:c.*178G>A | ENSP00000514469.1:n.*178G>A | |
| ENST00000699601.1:c.*1892G>A | ENSP00000514470.1:n.*1892G>A | |
| ENST00000699602.1:c.3511G>A | ENSP00000514471.1:p.Gly1171Ser | |
| ENST00000699604.1:c.*3341G>A | ENSP00000514472.1:n.*3341G>A | |
| ENST00000699605.1:c.3091G>A | ENSP00000514473.1:p.Gly1031Ser | |
| ENST00000685018.1:c.265G>A | ENSP00000510194.1:p.Gly89Ser | |
| ENST00000687278.1:c.1304G>A | ENSP00000509593.1:n.1304G>A | |
| ENST00000689011.1:c.99G>A | ||
| ENST00000003084.11:c.3517G>A MANE Select | ENSP00000003084.6:p.Gly1173Ser | |
| ENST00000647720.1:c.1167G>A | ||
| ENST00000648260.1:c.2299G>A | ENSP00000497957.1:p.Gly767Ser | |
| ENST00000649406.1:c.3334G>A | ENSP00000497965.1:p.Gly1112Ser | |
| ENST00000649781.1:c.3334G>A | ENSP00000497203.1:p.Gly1112Ser | |
| ENST00000003084.10:c.3517G>A | ENSP00000003084.6:p.Gly1173Ser | |
| ENST00000426809.5:c.3427G>A | ENSP00000389119.1:p.Gly1143Ser | |
| ENST00000468795.1:c.342G>A | ||
| NM_000492.3:c.3517G>A , LRG_663t1:c.3517G>A | NP_000483.3:p.Gly1173Ser | |
| XM_011515751.1:c.3607G>A | XP_011514053.1:p.Gly1203Ser | |
| XM_011515752.1:c.3607G>A | XP_011514054.1:p.Gly1203Ser | |
| XM_011515753.1:c.3274G>A | XP_011514055.1:p.Gly1092Ser | |
| XM_011515754.1:c.3274G>A | XP_011514056.1:p.Gly1092Ser | |
| NM_000492.4:c.3517G>A MANE Select | NP_000483.3:p.Gly1173Ser |