Linked Data
ClinVar Variation Id:
2967733
ClinVar RCV Id:
RCV003826395
dbSNP Id:
rs939408698
gnomAD v2:
9-131302593-C-T
gnomAD v4:
9-128540314-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128540314C>T , CM000671.2:g.128540314C>T | GRCh38 |
| NC_000009.11:g.131302593C>T , CM000671.1:g.131302593C>T | GRCh37 |
| NC_000009.10:g.130342414C>T | NCBI36 |
| NG_012073.1:g.40623C>T , LRG_484:g.40623C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1075C>T | ENSP00000507095.1:n.*1075C>T | |
| ENST00000683288.1:c.*2003C>T | ENSP00000507477.1:n.*2003C>T | |
| ENST00000683748.1:c.2031C>T | ENSP00000507377.1:p.Phe677= | |
| ENST00000683905.1:c.*680C>T | ENSP00000506960.1:n.*680C>T | |
| ENST00000684139.1:c.1539C>T | ENSP00000507295.1:p.Phe513= | |
| ENST00000684210.1:n.1717C>T | ||
| ENST00000684314.1:c.1899C>T | ENSP00000507700.1:p.Phe633= | |
| ENST00000684331.1:c.2004C>T | ENSP00000507431.1:p.Phe668= | |
| ENST00000684463.1:n.642C>T | ||
| ENST00000684646.1:c.1791C>T | ENSP00000507723.1:p.Phe597= | |
| ENST00000309971.9:c.2004C>T MANE Select | ENSP00000308622.5:p.Phe668= | |
| ENST00000309971.8:c.2004C>T | ENSP00000308622.4:p.Phe668= | |
| NM_001003722.1:c.2004C>T , LRG_484t1:c.2004C>T | NP_001003722.1:p.Phe668= | |
| XM_006717059.2:c.2040C>T | XP_006717122.1:p.Phe680= | |
| XM_006717060.2:c.2013C>T | XP_006717123.1:p.Phe671= | |
| XM_011518549.1:c.2040C>T | XP_011516851.1:p.Phe680= | |
| XM_011518550.1:c.2040C>T | XP_011516852.1:p.Phe680= | |
| XM_011518551.1:c.2031C>T | XP_011516853.1:p.Phe677= | |
| XM_011518552.1:c.1281C>T | XP_011516854.1:p.Phe427= | |
| XR_242681.3:n.100+3065G>A | ||
| XR_428600.2:n.124+656G>A | ||
| XM_006717059.3:c.2040C>T | XP_006717122.1:p.Phe680= | |
| XM_006717060.3:c.2013C>T | XP_006717123.1:p.Phe671= | |
| XM_011518551.2:c.2031C>T | XP_011516853.1:p.Phe677= | |
| XM_024447519.1:c.2013C>T | XP_024303287.1:p.Phe671= | |
| XR_428600.3:n.126+656G>A | ||
| NM_001003722.2:c.2004C>T MANE Select | NP_001003722.1:p.Phe668= |