Linked Data
dbSNP Id:
rs749377351
ExAC:
9:131303395 C / G
gnomAD v2:
9-131303395-C-G
gnomAD v4:
9-128541116-C-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.128541116C>G , CM000671.2:g.128541116C>G | GRCh38 |
| NC_000009.11:g.131303395C>G , CM000671.1:g.131303395C>G | GRCh37 |
| NC_000009.10:g.130343216C>G | NCBI36 |
| NG_012073.1:g.41425C>G , LRG_484:g.41425C>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000683044.1:c.*1114C>G | ENSP00000507095.1:n.*1114C>G | |
| ENST00000683288.1:c.*2042C>G | ENSP00000507477.1:n.*2042C>G | |
| ENST00000683748.1:c.2070C>G | ENSP00000507377.1:p.His690Gln | |
| ENST00000683905.1:c.*719C>G | ENSP00000506960.1:n.*719C>G | |
| ENST00000684139.1:c.1578C>G | ENSP00000507295.1:p.His526Gln | |
| ENST00000684210.1:n.1756C>G | ||
| ENST00000684314.1:c.1938C>G | ENSP00000507700.1:p.His646Gln | |
| ENST00000684331.1:c.*763C>G | ENSP00000507431.1:n.*763C>G | |
| ENST00000684463.1:n.681C>G | ||
| ENST00000684646.1:c.1830C>G | ENSP00000507723.1:p.His610Gln | |
| ENST00000309971.9:c.2043C>G MANE Select | ENSP00000308622.5:p.His681Gln | |
| ENST00000309971.8:c.2043C>G | ENSP00000308622.4:p.His681Gln | |
| NM_001003722.1:c.2043C>G , LRG_484t1:c.2043C>G | NP_001003722.1:p.His681Gln | |
| XM_006717059.2:c.2079C>G | XP_006717122.1:p.His693Gln | |
| XM_006717060.2:c.2052C>G | XP_006717123.1:p.His684Gln | |
| XM_011518549.1:c.2079C>G | XP_011516851.1:p.His693Gln | |
| XM_011518550.1:c.2079C>G | XP_011516852.1:p.His693Gln | |
| XM_011518551.1:c.2070C>G | XP_011516853.1:p.His690Gln | |
| XM_011518552.1:c.1320C>G | XP_011516854.1:p.His440Gln | |
| XR_242681.3:n.100+2263G>C | ||
| XM_006717059.3:c.2079C>G | XP_006717122.1:p.His693Gln | |
| XM_006717060.3:c.2052C>G | XP_006717123.1:p.His684Gln | |
| XM_011518551.2:c.2070C>G | XP_011516853.1:p.His690Gln | |
| XM_024447519.1:c.2052C>G | XP_024303287.1:p.His684Gln | |
| NM_001003722.2:c.2043C>G MANE Select | NP_001003722.1:p.His681Gln |