Linked Data
ClinVar Variation Id:
1708749
ClinVar RCV Id:
RCV002288033
dbSNP Id:
rs1017545536
gnomAD v2:
9-131303445-C-T
gnomAD v4:
9-128541166-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541166C>T , CM000671.2:g.128541166C>T | GRCh38 |
| NC_000009.11:g.131303445C>T , CM000671.1:g.131303445C>T | GRCh37 |
| NC_000009.10:g.130343266C>T | NCBI36 |
| NG_012073.1:g.41475C>T , LRG_484:g.41475C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1164C>T | ENSP00000507095.1:n.*1164C>T | |
| ENST00000683288.1:c.*2092C>T | ENSP00000507477.1:n.*2092C>T | |
| ENST00000683748.1:c.2120C>T | ENSP00000507377.1:p.Ser707Phe | |
| ENST00000683905.1:c.*769C>T | ENSP00000506960.1:n.*769C>T | |
| ENST00000684139.1:c.1628C>T | ENSP00000507295.1:p.Ser543Phe | |
| ENST00000684210.1:n.1806C>T | ||
| ENST00000684314.1:c.1988C>T | ENSP00000507700.1:p.Ser663Phe | |
| ENST00000684331.1:c.*813C>T | ENSP00000507431.1:n.*813C>T | |
| ENST00000684463.1:n.731C>T | ||
| ENST00000684646.1:c.1880C>T | ENSP00000507723.1:p.Ser627Phe | |
| ENST00000309971.9:c.2093C>T MANE Select | ENSP00000308622.5:p.Ser698Phe | |
| ENST00000309971.8:c.2093C>T | ENSP00000308622.4:p.Ser698Phe | |
| NM_001003722.1:c.2093C>T , LRG_484t1:c.2093C>T | NP_001003722.1:p.Ser698Phe | |
| XM_006717059.2:c.2129C>T | XP_006717122.1:p.Ser710Phe | |
| XM_006717060.2:c.2102C>T | XP_006717123.1:p.Ser701Phe | |
| XM_011518549.1:c.2129C>T | XP_011516851.1:p.Ser710Phe | |
| XM_011518550.1:c.2129C>T | XP_011516852.1:p.Ser710Phe | |
| XM_011518551.1:c.2120C>T | XP_011516853.1:p.Ser707Phe | |
| XM_011518552.1:c.1370C>T | XP_011516854.1:p.Ser457Phe | |
| XR_242681.3:n.100+2213G>A | ||
| XM_006717059.3:c.2129C>T | XP_006717122.1:p.Ser710Phe | |
| XM_006717060.3:c.2102C>T | XP_006717123.1:p.Ser701Phe | |
| XM_011518551.2:c.2120C>T | XP_011516853.1:p.Ser707Phe | |
| XM_024447519.1:c.2102C>T | XP_024303287.1:p.Ser701Phe | |
| NM_001003722.2:c.2093C>T MANE Select | NP_001003722.1:p.Ser698Phe |