Linked Data
dbSNP Id:
rs532270570
ExAC:
7:117282451 C / G
gnomAD v2:
7-117282451-C-G
gnomAD v3:
7-117642397-C-G
gnomAD v4:
7-117642397-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642397C>G , CM000669.2:g.117642397C>G | GRCh38 |
| NC_000007.13:g.117282451C>G , CM000669.1:g.117282451C>G | GRCh37 |
| NC_000007.12:g.117069687C>G | NCBI36 |
| NG_016465.4:g.181614C>G , LRG_663:g.181614C>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3518-41C>G | ENSP00000497673.2:n.3518-41C>G | |
| ENST00000647978.2:c.*3432-41C>G | ENSP00000497658.1:n.*3432-41C>G | |
| ENST00000649781.2:c.3535-41C>G | ENSP00000497203.1:n.3535-41C>G | |
| ENST00000685018.2:c.3718-41C>G | ENSP00000510194.2:n.3718-41C>G | |
| ENST00000687278.2:c.*371-41C>G | ENSP00000509593.2:n.*371-41C>G | |
| ENST00000699585.1:c.3518-41C>G | ENSP00000514456.1:n.3518-41C>G | |
| ENST00000699598.1:c.3718-41C>G | ENSP00000514467.1:n.3718-41C>G | |
| ENST00000699599.1:c.3718-41C>G | ENSP00000514468.1:n.3718-41C>G | |
| ENST00000699600.1:c.*379-41C>G | ENSP00000514469.1:n.*379-41C>G | |
| ENST00000699601.1:c.*2093-41C>G | ENSP00000514470.1:n.*2093-41C>G | |
| ENST00000699602.1:c.3712-41C>G | ENSP00000514471.1:n.3712-41C>G | |
| ENST00000699604.1:c.*3542-41C>G | ENSP00000514472.1:n.*3542-41C>G | |
| ENST00000699605.1:c.3292-41C>G | ENSP00000514473.1:n.3292-41C>G | |
| ENST00000685018.1:c.466-41C>G | ENSP00000510194.1:n.466-41C>G | |
| ENST00000687278.1:c.1505-41C>G | ENSP00000509593.1:n.1505-41C>G | |
| ENST00000689011.1:c.300-41C>G | ||
| ENST00000003084.11:c.3718-41C>G MANE Select | ENSP00000003084.6:n.3718-41C>G | |
| ENST00000647720.1:c.1168-41C>G | ||
| ENST00000649781.1:c.3535-41C>G | ENSP00000497203.1:n.3535-41C>G | |
| ENST00000003084.10:c.3718-41C>G | ENSP00000003084.6:n.3718-41C>G | |
| ENST00000426809.5:c.3628-41C>G | ENSP00000389119.1:n.3628-41C>G | |
| NM_000492.3:c.3718-41C>G , LRG_663t1:c.3718-41C>G | NP_000483.3:n.3718-41C>G | |
| XM_011515751.1:c.3808-41C>G | XP_011514053.1:n.3808-41C>G | |
| XM_011515752.1:c.3808-41C>G | XP_011514054.1:n.3808-41C>G | |
| XM_011515753.1:c.3475-41C>G | XP_011514055.1:n.3475-41C>G | |
| XM_011515754.1:c.3475-41C>G | XP_011514056.1:n.3475-41C>G | |
| NM_000492.4:c.3718-41C>G MANE Select | NP_000483.3:n.3718-41C>G |