Linked Data
ClinVar Variation Id:
2804992
ClinVar RCV Id:
RCV003684392
dbSNP Id:
rs187815721
ExAC:
6:88228350 G / A
gnomAD v2:
6-88228350-G-A
gnomAD v4:
6-87518632-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000006.12:g.87518632G>A , CM000668.2:g.87518632G>A | GRCh38 |
| NC_000006.11:g.88228350G>A , CM000668.1:g.88228350G>A | GRCh37 |
| NC_000006.10:g.88285069G>A | NCBI36 |
| NG_008601.1:g.76386C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000451155.2:c.888C>T | ENSP00000389656.2:p.His296= | |
| ENST00000493269.2:n.1433C>T | ||
| ENST00000497828.2:n.3608C>T | ||
| ENST00000684790.1:c.*419C>T | ENSP00000509974.1:n.*419C>T | |
| ENST00000685069.1:c.474C>T | ENSP00000509876.1:p.His158= | |
| ENST00000685219.1:n.1449C>T | ||
| ENST00000685336.1:c.*836C>T | ENSP00000508757.1:n.*836C>T | |
| ENST00000685376.1:c.*535C>T | ENSP00000508661.1:n.*535C>T | |
| ENST00000685408.1:c.888C>T | ENSP00000509026.1:p.His296= | |
| ENST00000685701.1:c.474C>T | ENSP00000509573.1:p.His158= | |
| ENST00000685881.1:c.888C>T | ENSP00000510572.1:p.His296= | |
| ENST00000686142.1:c.888C>T | ENSP00000510793.1:p.His296= | |
| ENST00000686154.1:c.474C>T | ENSP00000508436.1:p.His158= | |
| ENST00000686196.1:n.1658C>T | ||
| ENST00000686284.1:c.474C>T | ENSP00000510099.1:p.His158= | |
| ENST00000686371.1:n.915C>T | ||
| ENST00000686407.1:c.474C>T | ENSP00000509880.1:p.His158= | |
| ENST00000686857.1:c.*329C>T | ENSP00000509934.1:n.*329C>T | |
| ENST00000686988.1:c.1511C>T | ENSP00000508830.1:n.1511C>T | |
| ENST00000687090.1:n.1778C>T | ||
| ENST00000687437.1:c.1413C>T | ENSP00000508968.1:p.His471= | |
| ENST00000687579.1:c.*459C>T | ENSP00000510257.1:n.*459C>T | |
| ENST00000687586.1:c.336C>T | ENSP00000508441.1:p.His112= | |
| ENST00000687729.1:c.831C>T | ENSP00000508582.1:p.His277= | |
| ENST00000687909.1:c.*823C>T | ENSP00000508659.1:n.*823C>T | |
| ENST00000688106.1:c.474C>T | ENSP00000509529.1:p.His158= | |
| ENST00000688391.1:n.1921C>T | ||
| ENST00000688532.1:c.336C>T | ENSP00000510320.1:p.His112= | |
| ENST00000688808.1:n.1919C>T | ||
| ENST00000688842.1:n.3887C>T | ||
| ENST00000689174.1:c.888C>T | ENSP00000510542.1:p.His296= | |
| ENST00000689206.1:c.474C>T | ENSP00000510495.1:p.His158= | |
| ENST00000689561.1:n.2429C>T | ||
| ENST00000689594.1:n.2405C>T | ||
| ENST00000689952.1:c.*751C>T | ENSP00000508977.1:n.*751C>T | |
| ENST00000690205.1:c.*1291C>T | ENSP00000508972.1:n.*1291C>T | |
| ENST00000690622.1:c.474C>T | ENSP00000508528.1:p.His158= | |
| ENST00000690705.1:c.*329C>T | ENSP00000509923.1:n.*329C>T | |
| ENST00000690884.1:c.*329C>T | ENSP00000509931.1:n.*329C>T | |
| ENST00000691205.1:n.2379C>T | ||
| ENST00000691238.1:c.*535C>T | ENSP00000510094.1:n.*535C>T | |
| ENST00000691533.1:n.1449C>T | ||
| ENST00000691634.1:n.1294C>T | ||
| ENST00000691725.1:c.1413C>T | ENSP00000509453.1:p.His471= | |
| ENST00000691815.1:c.*329C>T | ENSP00000509579.1:n.*329C>T | |
| ENST00000692270.1:c.*329C>T | ENSP00000510055.1:n.*329C>T | |
| ENST00000692394.1:c.192C>T | ENSP00000509567.1:p.His64= | |
| ENST00000692684.1:c.888C>T | ENSP00000509712.1:p.His296= | |
| ENST00000692843.1:c.*400C>T | ENSP00000509592.1:n.*400C>T | |
| ENST00000693327.1:c.888C>T | ENSP00000509195.1:p.His296= | |
| ENST00000693431.1:c.888C>T | ENSP00000509147.1:p.His296= | |
| ENST00000693605.1:c.*329C>T | ENSP00000510050.1:n.*329C>T | |
| ENST00000369536.10:c.1413C>T MANE Select | ENSP00000358549.5:p.His471= | |
| ENST00000369536.9:c.1413C>T | ENSP00000358549.5:p.His471= | |
| ENST00000497828.1:n.516C>T | ||
| NM_020320.3:c.1413C>T | NP_064716.2:p.His471= | |
| XM_005248735.3:c.888C>T | XP_005248792.2:p.His296= | |
| XM_005248736.3:c.888C>T | XP_005248793.2:p.His296= | |
| XM_005248737.3:c.888C>T | XP_005248794.2:p.His296= | |
| XM_011535947.1:c.1413C>T | XP_011534249.1:p.His471= | |
| XM_011535948.1:c.1413C>T | XP_011534250.1:p.His471= | |
| XM_011535949.1:c.1413C>T | XP_011534251.1:p.His471= | |
| XM_011535950.1:c.888C>T | XP_011534252.1:p.His296= | |
| XM_011535951.1:c.888C>T | XP_011534253.1:p.His296= | |
| XM_011535952.1:c.474C>T | XP_011534254.1:p.His158= | |
| XM_011535953.1:c.474C>T | XP_011534255.1:p.His158= | |
| XM_011535954.1:c.474C>T | XP_011534256.1:p.His158= | |
| XM_011535955.1:c.474C>T | XP_011534257.1:p.His158= | |
| XR_241848.1:n.1469C>T | ||
| NM_001318785.1:c.888C>T | NP_001305714.1:p.His296= | |
| NM_001350505.1:c.1413C>T | NP_001337434.1:p.His471= | |
| NM_001350506.1:c.888C>T | NP_001337435.1:p.His296= | |
| NM_001350507.1:c.888C>T | NP_001337436.1:p.His296= | |
| NM_001350508.1:c.888C>T | NP_001337437.1:p.His296= | |
| NM_001350509.1:c.888C>T | NP_001337438.1:p.His296= | |
| NM_001350510.1:c.888C>T | NP_001337439.1:p.His296= | |
| NM_001350511.1:c.888C>T | NP_001337440.1:p.His296= | |
| NM_020320.4:c.1413C>T | NP_064716.2:p.His471= | |
| NR_134857.1:n.1484C>T | ||
| NR_146738.1:n.1756C>T | ||
| NR_146739.1:n.1565C>T | ||
| NR_146740.1:n.1833C>T | ||
| NR_146741.1:n.1495C>T | ||
| NR_146742.1:n.1867C>T | ||
| NR_146743.1:n.1705C>T | ||
| NR_146744.1:n.1833C>T | ||
| NR_146745.1:n.1492C>T | ||
| NR_146746.1:n.1927C>T | ||
| NR_146747.1:n.1271C>T | ||
| NR_146748.1:n.1731C>T | ||
| NR_146749.1:n.1705C>T | ||
| NR_146750.1:n.1829C>T | ||
| NR_146751.1:n.1709C>T | ||
| NR_146752.1:n.1773C>T | ||
| NR_146753.1:n.1625C>T | ||
| NR_146754.1:n.1569C>T | ||
| NR_146755.1:n.1833C>T | ||
| NR_146756.1:n.1488C>T | ||
| NR_146757.1:n.1759C>T | ||
| NR_146758.1:n.1488C>T | ||
| NR_146759.1:n.1488C>T | ||
| XM_011535949.3:c.1413C>T | XP_011534251.1:p.His471= | |
| XM_017011073.1:c.888C>T | XP_016866562.1:p.His296= | |
| XM_017011074.2:c.888C>T | XP_016866563.1:p.His296= | |
| XM_017011075.2:c.888C>T | XP_016866564.1:p.His296= | |
| XM_017011076.2:c.888C>T | XP_016866565.1:p.His296= | |
| XM_017011077.2:c.888C>T | XP_016866566.1:p.His296= | |
| XM_017011078.2:c.888C>T | XP_016866567.1:p.His296= | |
| XM_024446494.1:c.888C>T | XP_024302262.1:p.His296= | |
| NM_020320.5:c.1413C>T MANE Select | NP_064716.2:p.His471= | |
| NM_001318785.2:c.888C>T | NP_001305714.1:p.His296= | |
| NM_001350505.2:c.1413C>T | NP_001337434.1:p.His471= | |
| NM_001350506.2:c.888C>T | NP_001337435.1:p.His296= | |
| NM_001350507.2:c.888C>T | NP_001337436.1:p.His296= | |
| NM_001350508.2:c.888C>T | NP_001337437.1:p.His296= | |
| NM_001350509.2:c.888C>T | NP_001337438.1:p.His296= | |
| NM_001350510.2:c.888C>T | NP_001337439.1:p.His296= | |
| NM_001350511.2:c.888C>T | NP_001337440.1:p.His296= | |
| NR_134857.2:n.1439C>T | ||
| NR_146738.2:n.1711C>T | ||
| NR_146739.2:n.1520C>T | ||
| NR_146740.2:n.1788C>T | ||
| NR_146741.2:n.1450C>T | ||
| NR_146742.2:n.1822C>T | ||
| NR_146743.2:n.1660C>T | ||
| NR_146744.2:n.1788C>T | ||
| NR_146745.2:n.1447C>T | ||
| NR_146746.2:n.1882C>T | ||
| NR_146747.2:n.1226C>T | ||
| NR_146748.2:n.1686C>T | ||
| NR_146749.2:n.1660C>T | ||
| NR_146750.2:n.1784C>T | ||
| NR_146751.2:n.1664C>T | ||
| NR_146752.2:n.1728C>T | ||
| NR_146753.2:n.1580C>T | ||
| NR_146754.2:n.1524C>T | ||
| NR_146755.2:n.1788C>T | ||
| NR_146756.2:n.1443C>T | ||
| NR_146757.2:n.1714C>T | ||
| NR_146758.2:n.1443C>T | ||
| NR_146759.2:n.1443C>T |