Linked Data
ClinVar Variation Id:
1731292
ClinVar RCV Id:
RCV002456969
dbSNP Id:
rs748284173
gnomAD v2:
7-117254722-T-C
gnomAD v4:
7-117614668-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117614668T>C , CM000669.2:g.117614668T>C | GRCh38 |
| NC_000007.13:g.117254722T>C , CM000669.1:g.117254722T>C | GRCh37 |
| NC_000007.12:g.117041958T>C | NCBI36 |
| NG_016465.4:g.153885T>C , LRG_663:g.153885T>C |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000647720.2:c.3423T>C | ENSP00000497673.2:p.Ser1141= | |
| ENST00000647978.2:c.*3137T>C | ENSP00000497658.1:n.*3137T>C | |
| ENST00000649781.2:c.3240T>C | ENSP00000497203.1:p.Ser1080= | |
| ENST00000685018.2:c.3423T>C | ENSP00000510194.2:p.Ser1141= | |
| ENST00000687278.2:c.3423T>C | ENSP00000509593.2:p.Ser1141= | |
| ENST00000699585.1:c.3423T>C | ENSP00000514456.1:p.Ser1141= | |
| ENST00000699598.1:c.3423T>C | ENSP00000514467.1:p.Ser1141= | |
| ENST00000699599.1:c.3423T>C | ENSP00000514468.1:p.Ser1141= | |
| ENST00000699600.1:c.3423T>C | ENSP00000514469.1:p.Ser1141= | |
| ENST00000699601.1:c.*1798T>C | ENSP00000514470.1:n.*1798T>C | |
| ENST00000699602.1:c.3417T>C | ENSP00000514471.1:p.Ser1139= | |
| ENST00000699604.1:c.*3247T>C | ENSP00000514472.1:n.*3247T>C | |
| ENST00000699605.1:c.2997T>C | ENSP00000514473.1:p.Ser999= | |
| ENST00000685018.1:c.171T>C | ENSP00000510194.1:p.Ser57= | |
| ENST00000687278.1:c.1014T>C | ENSP00000509593.1:p.Ser338= | |
| ENST00000689011.1:c.5T>C | ||
| ENST00000003084.11:c.3423T>C MANE Select | ENSP00000003084.6:p.Ser1141= | |
| ENST00000647720.1:c.1073T>C | ||
| ENST00000648260.1:c.2205T>C | ENSP00000497957.1:p.Ser735= | |
| ENST00000649406.1:c.3240T>C | ENSP00000497965.1:p.Ser1080= | |
| ENST00000649781.1:c.3240T>C | ENSP00000497203.1:p.Ser1080= | |
| ENST00000003084.10:c.3423T>C | ENSP00000003084.6:p.Ser1141= | |
| ENST00000426809.5:c.3333T>C | ENSP00000389119.1:p.Ser1111= | |
| ENST00000468795.1:c.248T>C | ||
| NM_000492.3:c.3423T>C , LRG_663t1:c.3423T>C | NP_000483.3:p.Ser1141= | |
| XM_011515751.1:c.3513T>C | XP_011514053.1:p.Ser1171= | |
| XM_011515752.1:c.3513T>C | XP_011514054.1:p.Ser1171= | |
| XM_011515753.1:c.3180T>C | XP_011514055.1:p.Ser1060= | |
| XM_011515754.1:c.3180T>C | XP_011514056.1:p.Ser1060= | |
| NM_000492.4:c.3423T>C MANE Select | NP_000483.3:p.Ser1141= |