Linked Data
dbSNP Id:
rs746050496
ExAC:
7:117267649 C / A
gnomAD v2:
7-117267649-C-A
gnomAD v4:
7-117627595-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627595C>A , CM000669.2:g.117627595C>A | GRCh38 |
| NC_000007.13:g.117267649C>A , CM000669.1:g.117267649C>A | GRCh37 |
| NC_000007.12:g.117054885C>A | NCBI36 |
| NG_016465.4:g.166812C>A , LRG_663:g.166812C>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3517+25C>A | ENSP00000497673.2:n.3517+25C>A | |
| ENST00000647978.2:c.*3256C>A | ENSP00000497658.1:n.*3256C>A | |
| ENST00000649781.2:c.3359C>A | ENSP00000497203.1:p.Pro1120Gln | |
| ENST00000685018.2:c.3542C>A | ENSP00000510194.2:p.Pro1181Gln | |
| ENST00000687278.2:c.*195C>A | ENSP00000509593.2:n.*195C>A | |
| ENST00000699585.1:c.3517+25C>A | ENSP00000514456.1:n.3517+25C>A | |
| ENST00000699598.1:c.3542C>A | ENSP00000514467.1:p.Pro1181Gln | |
| ENST00000699599.1:c.3542C>A | ENSP00000514468.1:p.Pro1181Gln | |
| ENST00000699600.1:c.*203C>A | ENSP00000514469.1:n.*203C>A | |
| ENST00000699601.1:c.*1917C>A | ENSP00000514470.1:n.*1917C>A | |
| ENST00000699602.1:c.3536C>A | ENSP00000514471.1:p.Pro1179Gln | |
| ENST00000699604.1:c.*3366C>A | ENSP00000514472.1:n.*3366C>A | |
| ENST00000699605.1:c.3116C>A | ENSP00000514473.1:p.Pro1039Gln | |
| ENST00000685018.1:c.290C>A | ENSP00000510194.1:p.Pro97Gln | |
| ENST00000687278.1:c.1329C>A | ENSP00000509593.1:n.1329C>A | |
| ENST00000689011.1:c.124C>A | ||
| ENST00000003084.11:c.3542C>A MANE Select | ENSP00000003084.6:p.Pro1181Gln | |
| ENST00000647720.1:c.1167+25C>A | ||
| ENST00000648260.1:c.2324C>A | ENSP00000497957.1:p.Pro775Gln | |
| ENST00000649406.1:c.3359C>A | ENSP00000497965.1:p.Pro1120Gln | |
| ENST00000649781.1:c.3359C>A | ENSP00000497203.1:p.Pro1120Gln | |
| ENST00000003084.10:c.3542C>A | ENSP00000003084.6:p.Pro1181Gln | |
| ENST00000426809.5:c.3452C>A | ENSP00000389119.1:p.Pro1151Gln | |
| ENST00000468795.1:c.367C>A | ||
| NM_000492.3:c.3542C>A , LRG_663t1:c.3542C>A | NP_000483.3:p.Pro1181Gln | |
| XM_011515751.1:c.3632C>A | XP_011514053.1:p.Pro1211Gln | |
| XM_011515752.1:c.3632C>A | XP_011514054.1:p.Pro1211Gln | |
| XM_011515753.1:c.3299C>A | XP_011514055.1:p.Pro1100Gln | |
| XM_011515754.1:c.3299C>A | XP_011514056.1:p.Pro1100Gln | |
| NM_000492.4:c.3542C>A MANE Select | NP_000483.3:p.Pro1181Gln |