Linked Data
ClinVar Variation Id:
2795224
ClinVar RCV Id:
RCV003618258
dbSNP Id:
rs1792245381
gnomAD v3:
7-117602807-G-A
gnomAD v4:
7-117602807-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117602807G>A , CM000669.2:g.117602807G>A | GRCh38 |
| NC_000007.13:g.117242861G>A , CM000669.1:g.117242861G>A | GRCh37 |
| NC_000007.12:g.117030097G>A | NCBI36 |
| NG_016465.4:g.142024G>A , LRG_663:g.142024G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2620-19G>A | ENSP00000497673.2:n.2620-19G>A | |
| ENST00000647978.2:c.*2334-19G>A | ENSP00000497658.1:n.*2334-19G>A | |
| ENST00000649781.2:c.2437-19G>A | ENSP00000497203.1:n.2437-19G>A | |
| ENST00000685018.2:c.2620-19G>A | ENSP00000510194.2:n.2620-19G>A | |
| ENST00000687278.2:c.2620-19G>A | ENSP00000509593.2:n.2620-19G>A | |
| ENST00000699585.1:c.2620-19G>A | ENSP00000514456.1:n.2620-19G>A | |
| ENST00000699598.1:c.2620-19G>A | ENSP00000514467.1:n.2620-19G>A | |
| ENST00000699599.1:c.2620-19G>A | ENSP00000514468.1:n.2620-19G>A | |
| ENST00000699600.1:c.2620-19G>A | ENSP00000514469.1:n.2620-19G>A | |
| ENST00000699601.1:c.*920-19G>A | ENSP00000514470.1:n.*920-19G>A | |
| ENST00000699602.1:c.2620-19G>A | ENSP00000514471.1:n.2620-19G>A | |
| ENST00000699604.1:c.*2444-19G>A | ENSP00000514472.1:n.*2444-19G>A | |
| ENST00000699605.1:c.2194-19G>A | ENSP00000514473.1:n.2194-19G>A | |
| ENST00000687278.1:c.211-19G>A | ENSP00000509593.1:n.211-19G>A | |
| ENST00000003084.11:c.2620-19G>A MANE Select | ENSP00000003084.6:n.2620-19G>A | |
| ENST00000647720.1:c.270-19G>A | ||
| ENST00000648260.1:c.1402-19G>A | ENSP00000497957.1:n.1402-19G>A | |
| ENST00000649406.1:c.2437-19G>A | ENSP00000497965.1:n.2437-19G>A | |
| ENST00000649781.1:c.2437-19G>A | ENSP00000497203.1:n.2437-19G>A | |
| ENST00000003084.10:c.2620-19G>A | ENSP00000003084.6:n.2620-19G>A | |
| ENST00000426809.5:c.2530-19G>A | ENSP00000389119.1:n.2530-19G>A | |
| NM_000492.3:c.2620-19G>A , LRG_663t1:c.2620-19G>A | NP_000483.3:n.2620-19G>A | |
| XM_011515751.1:c.2710-19G>A | XP_011514053.1:n.2710-19G>A | |
| XM_011515752.1:c.2710-19G>A | XP_011514054.1:n.2710-19G>A | |
| XM_011515753.1:c.2377-19G>A | XP_011514055.1:n.2377-19G>A | |
| XM_011515754.1:c.2377-19G>A | XP_011514056.1:n.2377-19G>A | |
| NM_000492.4:c.2620-19G>A MANE Select | NP_000483.3:n.2620-19G>A |