Linked Data
dbSNP Id:
rs763211778
ExAC:
7:117282656 A / C
gnomAD v2:
7-117282656-A-C
gnomAD v4:
7-117642602-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117642602A>C , CM000669.2:g.117642602A>C | GRCh38 |
| NC_000007.13:g.117282656A>C , CM000669.1:g.117282656A>C | GRCh37 |
| NC_000007.12:g.117069892A>C | NCBI36 |
| NG_016465.4:g.181819A>C , LRG_663:g.181819A>C |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.*82+9A>C | ENSP00000497673.2:n.*82+9A>C | |
| ENST00000647978.2:c.*3587+9A>C | ENSP00000497658.1:n.*3587+9A>C | |
| ENST00000649781.2:c.3690+9A>C | ENSP00000497203.1:n.3690+9A>C | |
| ENST00000685018.2:c.3873+9A>C | ENSP00000510194.2:n.3873+9A>C | |
| ENST00000687278.2:c.*526+9A>C | ENSP00000509593.2:n.*526+9A>C | |
| ENST00000699585.1:c.*82+9A>C | ENSP00000514456.1:n.*82+9A>C | |
| ENST00000699598.1:c.3873+9A>C | ENSP00000514467.1:n.3873+9A>C | |
| ENST00000699599.1:c.3873+9A>C | ENSP00000514468.1:n.3873+9A>C | |
| ENST00000699600.1:c.*534+9A>C | ENSP00000514469.1:n.*534+9A>C | |
| ENST00000699601.1:c.*2248+9A>C | ENSP00000514470.1:n.*2248+9A>C | |
| ENST00000699602.1:c.3867+9A>C | ENSP00000514471.1:n.3867+9A>C | |
| ENST00000699604.1:c.*3697+9A>C | ENSP00000514472.1:n.*3697+9A>C | |
| ENST00000699605.1:c.3447+9A>C | ENSP00000514473.1:n.3447+9A>C | |
| ENST00000685018.1:c.621+9A>C | ENSP00000510194.1:n.621+9A>C | |
| ENST00000687278.1:c.1660+9A>C | ENSP00000509593.1:n.1660+9A>C | |
| ENST00000689011.1:c.455+9A>C | ||
| ENST00000003084.11:c.3873+9A>C MANE Select | ENSP00000003084.6:n.3873+9A>C | |
| ENST00000647720.1:c.1323+9A>C | ||
| ENST00000649781.1:c.3690+9A>C | ENSP00000497203.1:n.3690+9A>C | |
| ENST00000003084.10:c.3873+9A>C | ENSP00000003084.6:n.3873+9A>C | |
| ENST00000426809.5:c.3783+9A>C | ENSP00000389119.1:n.3783+9A>C | |
| NM_000492.3:c.3873+9A>C , LRG_663t1:c.3873+9A>C | NP_000483.3:n.3873+9A>C | |
| XM_011515751.1:c.3963+9A>C | XP_011514053.1:n.3963+9A>C | |
| XM_011515752.1:c.3963+9A>C | XP_011514054.1:n.3963+9A>C | |
| XM_011515753.1:c.3630+9A>C | XP_011514055.1:n.3630+9A>C | |
| XM_011515754.1:c.3630+9A>C | XP_011514056.1:n.3630+9A>C | |
| NM_000492.4:c.3873+9A>C MANE Select | NP_000483.3:n.3873+9A>C |