Linked Data
ClinVar Variation Id:
1118585
ClinVar RCV Id:
RCV001447721
dbSNP Id:
rs1239102386
gnomAD v2:
7-117242871-C-G
gnomAD v4:
7-117602817-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117602817C>G , CM000669.2:g.117602817C>G | GRCh38 |
| NC_000007.13:g.117242871C>G , CM000669.1:g.117242871C>G | GRCh37 |
| NC_000007.12:g.117030107C>G | NCBI36 |
| NG_016465.4:g.142034C>G , LRG_663:g.142034C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.2620-9C>G | ENSP00000497673.2:n.2620-9C>G | |
| ENST00000647978.2:c.*2334-9C>G | ENSP00000497658.1:n.*2334-9C>G | |
| ENST00000649781.2:c.2437-9C>G | ENSP00000497203.1:n.2437-9C>G | |
| ENST00000685018.2:c.2620-9C>G | ENSP00000510194.2:n.2620-9C>G | |
| ENST00000687278.2:c.2620-9C>G | ENSP00000509593.2:n.2620-9C>G | |
| ENST00000699585.1:c.2620-9C>G | ENSP00000514456.1:n.2620-9C>G | |
| ENST00000699598.1:c.2620-9C>G | ENSP00000514467.1:n.2620-9C>G | |
| ENST00000699599.1:c.2620-9C>G | ENSP00000514468.1:n.2620-9C>G | |
| ENST00000699600.1:c.2620-9C>G | ENSP00000514469.1:n.2620-9C>G | |
| ENST00000699601.1:c.*920-9C>G | ENSP00000514470.1:n.*920-9C>G | |
| ENST00000699602.1:c.2620-9C>G | ENSP00000514471.1:n.2620-9C>G | |
| ENST00000699604.1:c.*2444-9C>G | ENSP00000514472.1:n.*2444-9C>G | |
| ENST00000699605.1:c.2194-9C>G | ENSP00000514473.1:n.2194-9C>G | |
| ENST00000687278.1:c.211-9C>G | ENSP00000509593.1:n.211-9C>G | |
| ENST00000003084.11:c.2620-9C>G MANE Select | ENSP00000003084.6:n.2620-9C>G | |
| ENST00000647720.1:c.270-9C>G | ||
| ENST00000648260.1:c.1402-9C>G | ENSP00000497957.1:n.1402-9C>G | |
| ENST00000649406.1:c.2437-9C>G | ENSP00000497965.1:n.2437-9C>G | |
| ENST00000649781.1:c.2437-9C>G | ENSP00000497203.1:n.2437-9C>G | |
| ENST00000003084.10:c.2620-9C>G | ENSP00000003084.6:n.2620-9C>G | |
| ENST00000426809.5:c.2530-9C>G | ENSP00000389119.1:n.2530-9C>G | |
| NM_000492.3:c.2620-9C>G , LRG_663t1:c.2620-9C>G | NP_000483.3:n.2620-9C>G | |
| XM_011515751.1:c.2710-9C>G | XP_011514053.1:n.2710-9C>G | |
| XM_011515752.1:c.2710-9C>G | XP_011514054.1:n.2710-9C>G | |
| XM_011515753.1:c.2377-9C>G | XP_011514055.1:n.2377-9C>G | |
| XM_011515754.1:c.2377-9C>G | XP_011514056.1:n.2377-9C>G | |
| NM_000492.4:c.2620-9C>G MANE Select | NP_000483.3:n.2620-9C>G |