Linked Data
dbSNP Id:
rs748284173
ExAC:
7:117254722 T / A
gnomAD v2:
7-117254722-T-A
gnomAD v4:
7-117614668-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614668T>A , CM000669.2:g.117614668T>A | GRCh38 |
| NC_000007.13:g.117254722T>A , CM000669.1:g.117254722T>A | GRCh37 |
| NC_000007.12:g.117041958T>A | NCBI36 |
| NG_016465.4:g.153885T>A , LRG_663:g.153885T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3423T>A | ENSP00000497673.2:p.Ser1141Arg | |
| ENST00000647978.2:c.*3137T>A | ENSP00000497658.1:n.*3137T>A | |
| ENST00000649781.2:c.3240T>A | ENSP00000497203.1:p.Ser1080Arg | |
| ENST00000685018.2:c.3423T>A | ENSP00000510194.2:p.Ser1141Arg | |
| ENST00000687278.2:c.3423T>A | ENSP00000509593.2:p.Ser1141Arg | |
| ENST00000699585.1:c.3423T>A | ENSP00000514456.1:p.Ser1141Arg | |
| ENST00000699598.1:c.3423T>A | ENSP00000514467.1:p.Ser1141Arg | |
| ENST00000699599.1:c.3423T>A | ENSP00000514468.1:p.Ser1141Arg | |
| ENST00000699600.1:c.3423T>A | ENSP00000514469.1:p.Ser1141Arg | |
| ENST00000699601.1:c.*1798T>A | ENSP00000514470.1:n.*1798T>A | |
| ENST00000699602.1:c.3417T>A | ENSP00000514471.1:p.Ser1139Arg | |
| ENST00000699604.1:c.*3247T>A | ENSP00000514472.1:n.*3247T>A | |
| ENST00000699605.1:c.2997T>A | ENSP00000514473.1:p.Ser999Arg | |
| ENST00000685018.1:c.171T>A | ENSP00000510194.1:p.Ser57Arg | |
| ENST00000687278.1:c.1014T>A | ENSP00000509593.1:p.Ser338Arg | |
| ENST00000689011.1:c.5T>A | ||
| ENST00000003084.11:c.3423T>A MANE Select | ENSP00000003084.6:p.Ser1141Arg | |
| ENST00000647720.1:c.1073T>A | ||
| ENST00000648260.1:c.2205T>A | ENSP00000497957.1:p.Ser735Arg | |
| ENST00000649406.1:c.3240T>A | ENSP00000497965.1:p.Ser1080Arg | |
| ENST00000649781.1:c.3240T>A | ENSP00000497203.1:p.Ser1080Arg | |
| ENST00000003084.10:c.3423T>A | ENSP00000003084.6:p.Ser1141Arg | |
| ENST00000426809.5:c.3333T>A | ENSP00000389119.1:p.Ser1111Arg | |
| ENST00000468795.1:c.248T>A | ||
| NM_000492.3:c.3423T>A , LRG_663t1:c.3423T>A | NP_000483.3:p.Ser1141Arg | |
| XM_011515751.1:c.3513T>A | XP_011514053.1:p.Ser1171Arg | |
| XM_011515752.1:c.3513T>A | XP_011514054.1:p.Ser1171Arg | |
| XM_011515753.1:c.3180T>A | XP_011514055.1:p.Ser1060Arg | |
| XM_011515754.1:c.3180T>A | XP_011514056.1:p.Ser1060Arg | |
| NM_000492.4:c.3423T>A MANE Select | NP_000483.3:p.Ser1141Arg |