Linked Data
ClinVar Variation Id:
2567897
ClinVar RCV Id:
RCV003311496
dbSNP Id:
rs1005269197
gnomAD v2:
7-117254687-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614633G>A , CM000669.2:g.117614633G>A | GRCh38 |
| NC_000007.13:g.117254687G>A , CM000669.1:g.117254687G>A | GRCh37 |
| NC_000007.12:g.117041923G>A | NCBI36 |
| NG_016465.4:g.153850G>A , LRG_663:g.153850G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3388G>A | ENSP00000497673.2:p.Gly1130Ser | |
| ENST00000647978.2:c.*3102G>A | ENSP00000497658.1:n.*3102G>A | |
| ENST00000649781.2:c.3205G>A | ENSP00000497203.1:p.Gly1069Ser | |
| ENST00000685018.2:c.3388G>A | ENSP00000510194.2:p.Gly1130Ser | |
| ENST00000687278.2:c.3388G>A | ENSP00000509593.2:p.Gly1130Ser | |
| ENST00000699585.1:c.3388G>A | ENSP00000514456.1:p.Gly1130Ser | |
| ENST00000699598.1:c.3388G>A | ENSP00000514467.1:p.Gly1130Ser | |
| ENST00000699599.1:c.3388G>A | ENSP00000514468.1:p.Gly1130Ser | |
| ENST00000699600.1:c.3388G>A | ENSP00000514469.1:p.Gly1130Ser | |
| ENST00000699601.1:c.*1763G>A | ENSP00000514470.1:n.*1763G>A | |
| ENST00000699602.1:c.3382G>A | ENSP00000514471.1:p.Gly1128Ser | |
| ENST00000699604.1:c.*3212G>A | ENSP00000514472.1:n.*3212G>A | |
| ENST00000699605.1:c.2962G>A | ENSP00000514473.1:p.Gly988Ser | |
| ENST00000685018.1:c.136G>A | ENSP00000510194.1:p.Gly46Ser | |
| ENST00000687278.1:c.979G>A | ENSP00000509593.1:p.Gly327Ser | |
| ENST00000003084.11:c.3388G>A MANE Select | ENSP00000003084.6:p.Gly1130Ser | |
| ENST00000647720.1:c.1038G>A | ||
| ENST00000648260.1:c.2170G>A | ENSP00000497957.1:p.Gly724Ser | |
| ENST00000649406.1:c.3205G>A | ENSP00000497965.1:p.Gly1069Ser | |
| ENST00000649781.1:c.3205G>A | ENSP00000497203.1:p.Gly1069Ser | |
| ENST00000003084.10:c.3388G>A | ENSP00000003084.6:p.Gly1130Ser | |
| ENST00000426809.5:c.3298G>A | ENSP00000389119.1:p.Gly1100Ser | |
| ENST00000468795.1:c.213G>A | ||
| NM_000492.3:c.3388G>A , LRG_663t1:c.3388G>A | NP_000483.3:p.Gly1130Ser | |
| XM_011515751.1:c.3478G>A | XP_011514053.1:p.Gly1160Ser | |
| XM_011515752.1:c.3478G>A | XP_011514054.1:p.Gly1160Ser | |
| XM_011515753.1:c.3145G>A | XP_011514055.1:p.Gly1049Ser | |
| XM_011515754.1:c.3145G>A | XP_011514056.1:p.Gly1049Ser | |
| NM_000492.4:c.3388G>A MANE Select | NP_000483.3:p.Gly1130Ser |