Linked Data
ClinVar Variation Id:
495932
dbSNP Id:
rs761144879
ExAC:
7:117254647 C / T
gnomAD v2:
7-117254647-C-T
gnomAD v3:
7-117614593-C-T
gnomAD v4:
7-117614593-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614593C>T , CM000669.2:g.117614593C>T | GRCh38 |
| NC_000007.13:g.117254647C>T , CM000669.1:g.117254647C>T | GRCh37 |
| NC_000007.12:g.117041883C>T | NCBI36 |
| NG_016465.4:g.153810C>T , LRG_663:g.153810C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3368-20C>T | ENSP00000497673.2:n.3368-20C>T | |
| ENST00000647978.2:c.*3082-20C>T | ENSP00000497658.1:n.*3082-20C>T | |
| ENST00000649781.2:c.3185-20C>T | ENSP00000497203.1:n.3185-20C>T | |
| ENST00000685018.2:c.3368-20C>T | ENSP00000510194.2:n.3368-20C>T | |
| ENST00000687278.2:c.3368-20C>T | ENSP00000509593.2:n.3368-20C>T | |
| ENST00000699585.1:c.3368-20C>T | ENSP00000514456.1:n.3368-20C>T | |
| ENST00000699598.1:c.3368-20C>T | ENSP00000514467.1:n.3368-20C>T | |
| ENST00000699599.1:c.3368-20C>T | ENSP00000514468.1:n.3368-20C>T | |
| ENST00000699600.1:c.3368-20C>T | ENSP00000514469.1:n.3368-20C>T | |
| ENST00000699601.1:c.*1723C>T | ENSP00000514470.1:n.*1723C>T | |
| ENST00000699602.1:c.3368-26C>T | ENSP00000514471.1:n.3368-26C>T | |
| ENST00000699604.1:c.*3192-20C>T | ENSP00000514472.1:n.*3192-20C>T | |
| ENST00000699605.1:c.2942-20C>T | ENSP00000514473.1:n.2942-20C>T | |
| ENST00000685018.1:c.116-20C>T | ENSP00000510194.1:n.116-20C>T | |
| ENST00000687278.1:c.959-20C>T | ENSP00000509593.1:n.959-20C>T | |
| ENST00000003084.11:c.3368-20C>T MANE Select | ENSP00000003084.6:n.3368-20C>T | |
| ENST00000647720.1:c.1018-20C>T | ||
| ENST00000648260.1:c.2150-20C>T | ENSP00000497957.1:n.2150-20C>T | |
| ENST00000649406.1:c.3185-20C>T | ENSP00000497965.1:n.3185-20C>T | |
| ENST00000649781.1:c.3185-20C>T | ENSP00000497203.1:n.3185-20C>T | |
| ENST00000003084.10:c.3368-20C>T | ENSP00000003084.6:n.3368-20C>T | |
| ENST00000426809.5:c.3278-20C>T | ENSP00000389119.1:n.3278-20C>T | |
| ENST00000468795.1:c.193-20C>T | ||
| NM_000492.3:c.3368-20C>T , LRG_663t1:c.3368-20C>T | NP_000483.3:n.3368-20C>T | |
| XM_011515751.1:c.3458-20C>T | XP_011514053.1:n.3458-20C>T | |
| XM_011515752.1:c.3458-20C>T | XP_011514054.1:n.3458-20C>T | |
| XM_011515753.1:c.3125-20C>T | XP_011514055.1:n.3125-20C>T | |
| XM_011515754.1:c.3125-20C>T | XP_011514056.1:n.3125-20C>T | |
| NM_000492.4:c.3368-20C>T MANE Select | NP_000483.3:n.3368-20C>T |