Linked Data
dbSNP Id:
rs561068146
gnomAD v2:
9-131303319-T-G
gnomAD v3:
9-128541040-T-G
gnomAD v4:
9-128541040-T-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541040T>G , CM000671.2:g.128541040T>G | GRCh38 |
| NC_000009.11:g.131303319T>G , CM000671.1:g.131303319T>G | GRCh37 |
| NC_000009.10:g.130343140T>G | NCBI36 |
| NG_012073.1:g.41349T>G , LRG_484:g.41349T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1100-62T>G | ENSP00000507095.1:n.*1100-62T>G | |
| ENST00000683288.1:c.*2028-62T>G | ENSP00000507477.1:n.*2028-62T>G | |
| ENST00000683748.1:c.2056-62T>G | ENSP00000507377.1:n.2056-62T>G | |
| ENST00000683905.1:c.*705-62T>G | ENSP00000506960.1:n.*705-62T>G | |
| ENST00000684139.1:c.1564-62T>G | ENSP00000507295.1:n.1564-62T>G | |
| ENST00000684210.1:n.1742-62T>G | ||
| ENST00000684314.1:c.1924-62T>G | ENSP00000507700.1:n.1924-62T>G | |
| ENST00000684331.1:c.*687T>G | ENSP00000507431.1:n.*687T>G | |
| ENST00000684463.1:n.667-62T>G | ||
| ENST00000684646.1:c.1816-62T>G | ENSP00000507723.1:n.1816-62T>G | |
| ENST00000309971.9:c.2029-62T>G MANE Select | ENSP00000308622.5:n.2029-62T>G | |
| ENST00000309971.8:c.2029-62T>G | ENSP00000308622.4:n.2029-62T>G | |
| NM_001003722.1:c.2029-62T>G , LRG_484t1:c.2029-62T>G | NP_001003722.1:n.2029-62T>G | |
| XM_006717059.2:c.2065-62T>G | XP_006717122.1:n.2065-62T>G | |
| XM_006717060.2:c.2038-62T>G | XP_006717123.1:n.2038-62T>G | |
| XM_011518549.1:c.2065-62T>G | XP_011516851.1:n.2065-62T>G | |
| XM_011518550.1:c.2065-62T>G | XP_011516852.1:n.2065-62T>G | |
| XM_011518551.1:c.2056-62T>G | XP_011516853.1:n.2056-62T>G | |
| XM_011518552.1:c.1306-62T>G | XP_011516854.1:n.1306-62T>G | |
| XR_242681.3:n.100+2339A>C | ||
| XR_428600.2:n.54A>C | ||
| XM_006717059.3:c.2065-62T>G | XP_006717122.1:n.2065-62T>G | |
| XM_006717060.3:c.2038-62T>G | XP_006717123.1:n.2038-62T>G | |
| XM_011518551.2:c.2056-62T>G | XP_011516853.1:n.2056-62T>G | |
| XM_024447519.1:c.2038-62T>G | XP_024303287.1:n.2038-62T>G | |
| XR_428600.3:n.56A>C | ||
| NM_001003722.2:c.2029-62T>G MANE Select | NP_001003722.1:n.2029-62T>G |