Linked Data
dbSNP Id:
rs1343467895
gnomAD v2:
7-117282340-T-A
gnomAD v3:
7-117642286-T-A
gnomAD v4:
7-117642286-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642286T>A , CM000669.2:g.117642286T>A | GRCh38 |
| NC_000007.13:g.117282340T>A , CM000669.1:g.117282340T>A | GRCh37 |
| NC_000007.12:g.117069576T>A | NCBI36 |
| NG_016465.4:g.181503T>A , LRG_663:g.181503T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3518-152T>A | ENSP00000497673.2:n.3518-152T>A | |
| ENST00000647978.2:c.*3432-152T>A | ENSP00000497658.1:n.*3432-152T>A | |
| ENST00000649781.2:c.3535-152T>A | ENSP00000497203.1:n.3535-152T>A | |
| ENST00000685018.2:c.3718-152T>A | ENSP00000510194.2:n.3718-152T>A | |
| ENST00000687278.2:c.*371-152T>A | ENSP00000509593.2:n.*371-152T>A | |
| ENST00000699585.1:c.3518-152T>A | ENSP00000514456.1:n.3518-152T>A | |
| ENST00000699598.1:c.3718-152T>A | ENSP00000514467.1:n.3718-152T>A | |
| ENST00000699599.1:c.3718-152T>A | ENSP00000514468.1:n.3718-152T>A | |
| ENST00000699600.1:c.*379-152T>A | ENSP00000514469.1:n.*379-152T>A | |
| ENST00000699601.1:c.*2093-152T>A | ENSP00000514470.1:n.*2093-152T>A | |
| ENST00000699602.1:c.3712-152T>A | ENSP00000514471.1:n.3712-152T>A | |
| ENST00000699604.1:c.*3542-152T>A | ENSP00000514472.1:n.*3542-152T>A | |
| ENST00000699605.1:c.3292-152T>A | ENSP00000514473.1:n.3292-152T>A | |
| ENST00000685018.1:c.466-152T>A | ENSP00000510194.1:n.466-152T>A | |
| ENST00000687278.1:c.1505-152T>A | ENSP00000509593.1:n.1505-152T>A | |
| ENST00000689011.1:c.300-152T>A | ||
| ENST00000003084.11:c.3718-152T>A MANE Select | ENSP00000003084.6:n.3718-152T>A | |
| ENST00000647720.1:c.1168-152T>A | ||
| ENST00000649781.1:c.3535-152T>A | ENSP00000497203.1:n.3535-152T>A | |
| ENST00000003084.10:c.3718-152T>A | ENSP00000003084.6:n.3718-152T>A | |
| ENST00000426809.5:c.3628-152T>A | ENSP00000389119.1:n.3628-152T>A | |
| NM_000492.3:c.3718-152T>A , LRG_663t1:c.3718-152T>A | NP_000483.3:n.3718-152T>A | |
| XM_011515751.1:c.3808-152T>A | XP_011514053.1:n.3808-152T>A | |
| XM_011515752.1:c.3808-152T>A | XP_011514054.1:n.3808-152T>A | |
| XM_011515753.1:c.3475-152T>A | XP_011514055.1:n.3475-152T>A | |
| XM_011515754.1:c.3475-152T>A | XP_011514056.1:n.3475-152T>A | |
| NM_000492.4:c.3718-152T>A MANE Select | NP_000483.3:n.3718-152T>A |