Linked Data
ClinVar Variation Id:
53757
ClinVar RCV Id:
RCV000577354
dbSNP Id:
rs397508573
gnomAD v2:
7-117267583-C-T
gnomAD v4:
7-117627529-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.117627529C>T , CM000669.2:g.117627529C>T | GRCh38 |
| NC_000007.13:g.117267583C>T , CM000669.1:g.117267583C>T | GRCh37 |
| NC_000007.12:g.117054819C>T | NCBI36 |
| NG_016465.4:g.166746C>T , LRG_663:g.166746C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000647720.2:c.3476C>T | ENSP00000497673.2:p.Ser1159Phe | |
| ENST00000647978.2:c.*3190C>T | ENSP00000497658.1:n.*3190C>T | |
| ENST00000649781.2:c.3293C>T | ENSP00000497203.1:p.Ser1098Phe | |
| ENST00000685018.2:c.3476C>T | ENSP00000510194.2:p.Ser1159Phe | |
| ENST00000687278.2:c.*129C>T | ENSP00000509593.2:n.*129C>T | |
| ENST00000699585.1:c.3476C>T | ENSP00000514456.1:p.Ser1159Phe | |
| ENST00000699598.1:c.3476C>T | ENSP00000514467.1:p.Ser1159Phe | |
| ENST00000699599.1:c.3476C>T | ENSP00000514468.1:p.Ser1159Phe | |
| ENST00000699600.1:c.*137C>T | ENSP00000514469.1:n.*137C>T | |
| ENST00000699601.1:c.*1851C>T | ENSP00000514470.1:n.*1851C>T | |
| ENST00000699602.1:c.3470C>T | ENSP00000514471.1:p.Ser1157Phe | |
| ENST00000699604.1:c.*3300C>T | ENSP00000514472.1:n.*3300C>T | |
| ENST00000699605.1:c.3050C>T | ENSP00000514473.1:p.Ser1017Phe | |
| ENST00000685018.1:c.224C>T | ENSP00000510194.1:p.Ser75Phe | |
| ENST00000687278.1:c.1263C>T | ENSP00000509593.1:n.1263C>T | |
| ENST00000689011.1:c.58C>T | ||
| ENST00000003084.11:c.3476C>T MANE Select | ENSP00000003084.6:p.Ser1159Phe | |
| ENST00000647720.1:c.1126C>T | ||
| ENST00000648260.1:c.2258C>T | ENSP00000497957.1:p.Ser753Phe | |
| ENST00000649406.1:c.3293C>T | ENSP00000497965.1:p.Ser1098Phe | |
| ENST00000649781.1:c.3293C>T | ENSP00000497203.1:p.Ser1098Phe | |
| ENST00000003084.10:c.3476C>T | ENSP00000003084.6:p.Ser1159Phe | |
| ENST00000426809.5:c.3386C>T | ENSP00000389119.1:p.Ser1129Phe | |
| ENST00000468795.1:c.301C>T | ||
| NM_000492.3:c.3476C>T , LRG_663t1:c.3476C>T | NP_000483.3:p.Ser1159Phe | |
| XM_011515751.1:c.3566C>T | XP_011514053.1:p.Ser1189Phe | |
| XM_011515752.1:c.3566C>T | XP_011514054.1:p.Ser1189Phe | |
| XM_011515753.1:c.3233C>T | XP_011514055.1:p.Ser1078Phe | |
| XM_011515754.1:c.3233C>T | XP_011514056.1:p.Ser1078Phe | |
| NM_000492.4:c.3476C>T MANE Select | NP_000483.3:p.Ser1159Phe |