Linked Data
ClinVar Variation Id:
495933
dbSNP Id:
rs213982
gnomAD v2:
7-117256876-T-C
gnomAD v3:
7-117616822-T-C
gnomAD v4:
7-117616822-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117616822T>C , CM000669.2:g.117616822T>C | GRCh38 |
| NC_000007.13:g.117256876T>C , CM000669.1:g.117256876T>C | GRCh37 |
| NC_000007.12:g.117044112T>C | NCBI36 |
| NG_016465.4:g.156039T>C , LRG_663:g.156039T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3468+2109T>C | ENSP00000497673.2:n.3468+2109T>C | |
| ENST00000647978.2:c.*3182+2109T>C | ENSP00000497658.1:n.*3182+2109T>C | |
| ENST00000649781.2:c.3285+2109T>C | ENSP00000497203.1:n.3285+2109T>C | |
| ENST00000685018.2:c.3468+2109T>C | ENSP00000510194.2:n.3468+2109T>C | |
| ENST00000687278.2:c.3468+2109T>C | ENSP00000509593.2:n.3468+2109T>C | |
| ENST00000699585.1:c.3468+2109T>C | ENSP00000514456.1:n.3468+2109T>C | |
| ENST00000699598.1:c.3468+2109T>C | ENSP00000514467.1:n.3468+2109T>C | |
| ENST00000699599.1:c.3468+2109T>C | ENSP00000514468.1:n.3468+2109T>C | |
| ENST00000699600.1:c.3468+2109T>C | ENSP00000514469.1:n.3468+2109T>C | |
| ENST00000699601.1:c.*1843+2109T>C | ENSP00000514470.1:n.*1843+2109T>C | |
| ENST00000699602.1:c.3462+2109T>C | ENSP00000514471.1:n.3462+2109T>C | |
| ENST00000699604.1:c.*3292+2109T>C | ENSP00000514472.1:n.*3292+2109T>C | |
| ENST00000699605.1:c.3042+2109T>C | ENSP00000514473.1:n.3042+2109T>C | |
| ENST00000685018.1:c.216+2109T>C | ENSP00000510194.1:n.216+2109T>C | |
| ENST00000687278.1:c.1059+2109T>C | ENSP00000509593.1:n.1059+2109T>C | |
| ENST00000689011.1:c.50+2109T>C | ||
| ENST00000003084.11:c.3468+2109T>C MANE Select | ENSP00000003084.6:n.3468+2109T>C | |
| ENST00000647720.1:c.1118+2109T>C | ||
| ENST00000648260.1:c.2250+2109T>C | ENSP00000497957.1:n.2250+2109T>C | |
| ENST00000649406.1:c.3285+2109T>C | ENSP00000497965.1:n.3285+2109T>C | |
| ENST00000649781.1:c.3285+2109T>C | ENSP00000497203.1:n.3285+2109T>C | |
| ENST00000003084.10:c.3468+2109T>C | ENSP00000003084.6:n.3468+2109T>C | |
| ENST00000426809.5:c.3378+2109T>C | ENSP00000389119.1:n.3378+2109T>C | |
| ENST00000468795.1:c.293+2109T>C | ||
| NM_000492.3:c.3468+2109T>C , LRG_663t1:c.3468+2109T>C | NP_000483.3:n.3468+2109T>C | |
| XM_011515751.1:c.3558+2109T>C | XP_011514053.1:n.3558+2109T>C | |
| XM_011515752.1:c.3558+2109T>C | XP_011514054.1:n.3558+2109T>C | |
| XM_011515753.1:c.3225+2109T>C | XP_011514055.1:n.3225+2109T>C | |
| XM_011515754.1:c.3225+2109T>C | XP_011514056.1:n.3225+2109T>C | |
| NM_000492.4:c.3468+2109T>C MANE Select | NP_000483.3:n.3468+2109T>C |