Linked Data
dbSNP Id:
rs1225321585
gnomAD v2:
9-131303433-C-T
gnomAD v3:
9-128541154-C-T
gnomAD v4:
9-128541154-C-T
COSMIC:
COSM4476622
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541154C>T , CM000671.2:g.128541154C>T | GRCh38 |
| NC_000009.11:g.131303433C>T , CM000671.1:g.131303433C>T | GRCh37 |
| NC_000009.10:g.130343254C>T | NCBI36 |
| NG_012073.1:g.41463C>T , LRG_484:g.41463C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1152C>T | ENSP00000507095.1:n.*1152C>T | |
| ENST00000683288.1:c.*2080C>T | ENSP00000507477.1:n.*2080C>T | |
| ENST00000683748.1:c.2108C>T | ENSP00000507377.1:p.Ser703Phe | |
| ENST00000683905.1:c.*757C>T | ENSP00000506960.1:n.*757C>T | |
| ENST00000684139.1:c.1616C>T | ENSP00000507295.1:p.Ser539Phe | |
| ENST00000684210.1:n.1794C>T | ||
| ENST00000684314.1:c.1976C>T | ENSP00000507700.1:p.Ser659Phe | |
| ENST00000684331.1:c.*801C>T | ENSP00000507431.1:n.*801C>T | |
| ENST00000684463.1:n.719C>T | ||
| ENST00000684646.1:c.1868C>T | ENSP00000507723.1:p.Ser623Phe | |
| ENST00000309971.9:c.2081C>T MANE Select | ENSP00000308622.5:p.Ser694Phe | |
| ENST00000309971.8:c.2081C>T | ENSP00000308622.4:p.Ser694Phe | |
| NM_001003722.1:c.2081C>T , LRG_484t1:c.2081C>T | NP_001003722.1:p.Ser694Phe | |
| XM_006717059.2:c.2117C>T | XP_006717122.1:p.Ser706Phe | |
| XM_006717060.2:c.2090C>T | XP_006717123.1:p.Ser697Phe | |
| XM_011518549.1:c.2117C>T | XP_011516851.1:p.Ser706Phe | |
| XM_011518550.1:c.2117C>T | XP_011516852.1:p.Ser706Phe | |
| XM_011518551.1:c.2108C>T | XP_011516853.1:p.Ser703Phe | |
| XM_011518552.1:c.1358C>T | XP_011516854.1:p.Ser453Phe | |
| XR_242681.3:n.100+2225G>A | ||
| XM_006717059.3:c.2117C>T | XP_006717122.1:p.Ser706Phe | |
| XM_006717060.3:c.2090C>T | XP_006717123.1:p.Ser697Phe | |
| XM_011518551.2:c.2108C>T | XP_011516853.1:p.Ser703Phe | |
| XM_024447519.1:c.2090C>T | XP_024303287.1:p.Ser697Phe | |
| NM_001003722.2:c.2081C>T MANE Select | NP_001003722.1:p.Ser694Phe |