Linked Data
ClinVar Variation Id:
35875
dbSNP Id:
rs193922520
ExAC:
7:117267829 G / A
gnomAD v2:
7-117267829-G-A
gnomAD v4:
7-117627775-G-A
PubMed:
PMID:12439892
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627775G>A , CM000669.2:g.117627775G>A | GRCh38 |
| NC_000007.13:g.117267829G>A , CM000669.1:g.117267829G>A | GRCh37 |
| NC_000007.12:g.117055065G>A | NCBI36 |
| NG_016465.4:g.166992G>A , LRG_663:g.166992G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+205G>A | ENSP00000497673.2:n.3517+205G>A | |
| ENST00000647978.2:c.*3431+5G>A | ENSP00000497658.1:n.*3431+5G>A | |
| ENST00000649781.2:c.3534+5G>A | ENSP00000497203.1:n.3534+5G>A | |
| ENST00000685018.2:c.3717+5G>A | ENSP00000510194.2:n.3717+5G>A | |
| ENST00000687278.2:c.*370+5G>A | ENSP00000509593.2:n.*370+5G>A | |
| ENST00000699585.1:c.3517+205G>A | ENSP00000514456.1:n.3517+205G>A | |
| ENST00000699598.1:c.3717+5G>A | ENSP00000514467.1:n.3717+5G>A | |
| ENST00000699599.1:c.3717+5G>A | ENSP00000514468.1:n.3717+5G>A | |
| ENST00000699600.1:c.*378+5G>A | ENSP00000514469.1:n.*378+5G>A | |
| ENST00000699601.1:c.*2092+5G>A | ENSP00000514470.1:n.*2092+5G>A | |
| ENST00000699602.1:c.3711+5G>A | ENSP00000514471.1:n.3711+5G>A | |
| ENST00000699604.1:c.*3541+5G>A | ENSP00000514472.1:n.*3541+5G>A | |
| ENST00000699605.1:c.3291+5G>A | ENSP00000514473.1:n.3291+5G>A | |
| ENST00000685018.1:c.465+5G>A | ENSP00000510194.1:n.465+5G>A | |
| ENST00000687278.1:c.1504+5G>A | ENSP00000509593.1:n.1504+5G>A | |
| ENST00000689011.1:c.299+5G>A | ||
| ENST00000003084.11:c.3717+5G>A MANE Select | ENSP00000003084.6:n.3717+5G>A | |
| ENST00000647720.1:c.1167+205G>A | ||
| ENST00000648260.1:c.2504G>A | ENSP00000497957.1:p.Arg835Lys | |
| ENST00000649406.1:c.3539G>A | ENSP00000497965.1:p.Arg1180Lys | |
| ENST00000649781.1:c.3534+5G>A | ENSP00000497203.1:n.3534+5G>A | |
| ENST00000003084.10:c.3717+5G>A | ENSP00000003084.6:n.3717+5G>A | |
| ENST00000426809.5:c.3627+5G>A | ENSP00000389119.1:n.3627+5G>A | |
| ENST00000468795.1:c.547G>A | ||
| NM_000492.3:c.3717+5G>A , LRG_663t1:c.3717+5G>A | NP_000483.3:n.3717+5G>A | |
| XM_011515751.1:c.3807+5G>A | XP_011514053.1:n.3807+5G>A | |
| XM_011515752.1:c.3807+5G>A | XP_011514054.1:n.3807+5G>A | |
| XM_011515753.1:c.3474+5G>A | XP_011514055.1:n.3474+5G>A | |
| XM_011515754.1:c.3474+5G>A | XP_011514056.1:n.3474+5G>A | |
| NM_000492.4:c.3717+5G>A MANE Select | NP_000483.3:n.3717+5G>A |