Linked Data
ClinVar Variation Id:
1664334
dbSNP Id:
rs1229413013
gnomAD v2:
7-117305638-C-T
gnomAD v4:
7-117665584-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117665584C>T , CM000669.2:g.117665584C>T | GRCh38 |
| NC_000007.13:g.117305638C>T , CM000669.1:g.117305638C>T | GRCh37 |
| NC_000007.12:g.117092874C>T | NCBI36 |
| NG_016465.4:g.204801C>T , LRG_663:g.204801C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.*451+20C>T | ENSP00000497673.2:n.*451+20C>T | |
| ENST00000647978.2:c.*3956+20C>T | ENSP00000497658.1:n.*3956+20C>T | |
| ENST00000649781.2:c.4059+20C>T | ENSP00000497203.1:n.4059+20C>T | |
| ENST00000685018.2:c.*455+20C>T | ENSP00000510194.2:n.*455+20C>T | |
| ENST00000687278.2:c.*895+20C>T | ENSP00000509593.2:n.*895+20C>T | |
| ENST00000699585.1:c.*451+20C>T | ENSP00000514456.1:n.*451+20C>T | |
| ENST00000699598.1:c.4242+20C>T | ENSP00000514467.1:n.4242+20C>T | |
| ENST00000699599.1:c.*455+20C>T | ENSP00000514468.1:n.*455+20C>T | |
| ENST00000699600.1:c.*903+20C>T | ENSP00000514469.1:n.*903+20C>T | |
| ENST00000699601.1:c.*2617+20C>T | ENSP00000514470.1:n.*2617+20C>T | |
| ENST00000699602.1:c.4236+20C>T | ENSP00000514471.1:n.4236+20C>T | |
| ENST00000699604.1:c.*4066+20C>T | ENSP00000514472.1:n.*4066+20C>T | |
| ENST00000699605.1:c.3816+20C>T | ENSP00000514473.1:n.3816+20C>T | |
| ENST00000699606.1:n.2430C>T | ||
| ENST00000685018.1:c.1106+20C>T | ENSP00000510194.1:n.1106+20C>T | |
| ENST00000687278.1:c.2029+20C>T | ENSP00000509593.1:n.2029+20C>T | |
| ENST00000689011.1:c.824+20C>T | ||
| ENST00000003084.11:c.4242+20C>T MANE Select | ENSP00000003084.6:n.4242+20C>T | |
| ENST00000647720.1:c.1692+20C>T | ||
| ENST00000649781.1:c.4059+20C>T | ENSP00000497203.1:n.4059+20C>T | |
| ENST00000003084.10:c.4242+20C>T | ENSP00000003084.6:n.4242+20C>T | |
| ENST00000426809.5:c.4152+20C>T | ENSP00000389119.1:n.4152+20C>T | |
| ENST00000600166.1:c.368+20C>T | ||
| NM_000492.3:c.4242+20C>T , LRG_663t1:c.4242+20C>T | NP_000483.3:n.4242+20C>T | |
| XM_011515751.1:c.4332+20C>T | XP_011514053.1:n.4332+20C>T | |
| XM_011515752.1:c.4332+20C>T | XP_011514054.1:n.4332+20C>T | |
| XM_011515753.1:c.3999+20C>T | XP_011514055.1:n.3999+20C>T | |
| XM_011515754.1:c.3999+20C>T | XP_011514056.1:n.3999+20C>T | |
| NM_000492.4:c.4242+20C>T MANE Select | NP_000483.3:n.4242+20C>T |