Linked Data
ClinVar Variation Id:
2878993
ClinVar RCV Id:
RCV003707999
dbSNP Id:
rs374708625
ExAC:
9:131303361 C / T
gnomAD v2:
9-131303361-C-T
gnomAD v3:
9-128541082-C-T
gnomAD v4:
9-128541082-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541082C>T , CM000671.2:g.128541082C>T | GRCh38 |
| NC_000009.11:g.131303361C>T , CM000671.1:g.131303361C>T | GRCh37 |
| NC_000009.10:g.130343182C>T | NCBI36 |
| NG_012073.1:g.41391C>T , LRG_484:g.41391C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1100-20C>T | ENSP00000507095.1:n.*1100-20C>T | |
| ENST00000683288.1:c.*2028-20C>T | ENSP00000507477.1:n.*2028-20C>T | |
| ENST00000683748.1:c.2056-20C>T | ENSP00000507377.1:n.2056-20C>T | |
| ENST00000683905.1:c.*705-20C>T | ENSP00000506960.1:n.*705-20C>T | |
| ENST00000684139.1:c.1564-20C>T | ENSP00000507295.1:n.1564-20C>T | |
| ENST00000684210.1:n.1742-20C>T | ||
| ENST00000684314.1:c.1924-20C>T | ENSP00000507700.1:n.1924-20C>T | |
| ENST00000684331.1:c.*729C>T | ENSP00000507431.1:n.*729C>T | |
| ENST00000684463.1:n.667-20C>T | ||
| ENST00000684646.1:c.1816-20C>T | ENSP00000507723.1:n.1816-20C>T | |
| ENST00000309971.9:c.2029-20C>T MANE Select | ENSP00000308622.5:n.2029-20C>T | |
| ENST00000309971.8:c.2029-20C>T | ENSP00000308622.4:n.2029-20C>T | |
| NM_001003722.1:c.2029-20C>T , LRG_484t1:c.2029-20C>T | NP_001003722.1:n.2029-20C>T | |
| XM_006717059.2:c.2065-20C>T | XP_006717122.1:n.2065-20C>T | |
| XM_006717060.2:c.2038-20C>T | XP_006717123.1:n.2038-20C>T | |
| XM_011518549.1:c.2065-20C>T | XP_011516851.1:n.2065-20C>T | |
| XM_011518550.1:c.2065-20C>T | XP_011516852.1:n.2065-20C>T | |
| XM_011518551.1:c.2056-20C>T | XP_011516853.1:n.2056-20C>T | |
| XM_011518552.1:c.1306-20C>T | XP_011516854.1:n.1306-20C>T | |
| XR_242681.3:n.100+2297G>A | ||
| XR_428600.2:n.12G>A | ||
| XM_006717059.3:c.2065-20C>T | XP_006717122.1:n.2065-20C>T | |
| XM_006717060.3:c.2038-20C>T | XP_006717123.1:n.2038-20C>T | |
| XM_011518551.2:c.2056-20C>T | XP_011516853.1:n.2056-20C>T | |
| XM_024447519.1:c.2038-20C>T | XP_024303287.1:n.2038-20C>T | |
| XR_428600.3:n.14G>A | ||
| NM_001003722.2:c.2029-20C>T MANE Select | NP_001003722.1:n.2029-20C>T |