Linked Data
ClinVar Variation Id:
1569654
ClinVar RCV Id:
RCV002213344
dbSNP Id:
rs2132546307
gnomAD v4:
9-128541140-C-T
MyVariant Identifiers:
chr9:g.131303419C>T (hg19)
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541140C>T , CM000671.2:g.128541140C>T | GRCh38 |
| NC_000009.11:g.131303419C>T , CM000671.1:g.131303419C>T | GRCh37 |
| NC_000009.10:g.130343240C>T | NCBI36 |
| NG_012073.1:g.41449C>T , LRG_484:g.41449C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1138C>T | ENSP00000507095.1:n.*1138C>T | |
| ENST00000683288.1:c.*2066C>T | ENSP00000507477.1:n.*2066C>T | |
| ENST00000683748.1:c.2094C>T | ENSP00000507377.1:p.Gly698= | |
| ENST00000683905.1:c.*743C>T | ENSP00000506960.1:n.*743C>T | |
| ENST00000684139.1:c.1602C>T | ENSP00000507295.1:p.Gly534= | |
| ENST00000684210.1:n.1780C>T | ||
| ENST00000684314.1:c.1962C>T | ENSP00000507700.1:p.Gly654= | |
| ENST00000684331.1:c.*787C>T | ENSP00000507431.1:n.*787C>T | |
| ENST00000684463.1:n.705C>T | ||
| ENST00000684646.1:c.1854C>T | ENSP00000507723.1:p.Gly618= | |
| ENST00000309971.9:c.2067C>T MANE Select | ENSP00000308622.5:p.Gly689= | |
| ENST00000309971.8:c.2067C>T | ENSP00000308622.4:p.Gly689= | |
| NM_001003722.1:c.2067C>T , LRG_484t1:c.2067C>T | NP_001003722.1:p.Gly689= | |
| XM_006717059.2:c.2103C>T | XP_006717122.1:p.Gly701= | |
| XM_006717060.2:c.2076C>T | XP_006717123.1:p.Gly692= | |
| XM_011518549.1:c.2103C>T | XP_011516851.1:p.Gly701= | |
| XM_011518550.1:c.2103C>T | XP_011516852.1:p.Gly701= | |
| XM_011518551.1:c.2094C>T | XP_011516853.1:p.Gly698= | |
| XM_011518552.1:c.1344C>T | XP_011516854.1:p.Gly448= | |
| XR_242681.3:n.100+2239G>A | ||
| XM_006717059.3:c.2103C>T | XP_006717122.1:p.Gly701= | |
| XM_006717060.3:c.2076C>T | XP_006717123.1:p.Gly692= | |
| XM_011518551.2:c.2094C>T | XP_011516853.1:p.Gly698= | |
| XM_024447519.1:c.2076C>T | XP_024303287.1:p.Gly692= | |
| NM_001003722.2:c.2067C>T MANE Select | NP_001003722.1:p.Gly689= |