Linked Data
ClinVar Variation Id:
1942104
ClinVar RCV Id:
RCV002675797
dbSNP Id:
rs182266160
ExAC:
3:71019920 G / A
gnomAD v2:
3-71019920-G-A
gnomAD v3:
3-70970769-G-A
gnomAD v4:
3-70970769-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.70970769G>A , CM000665.2:g.70970769G>A | GRCh38 |
| NC_000003.11:g.71019920G>A , CM000665.1:g.71019920G>A | GRCh37 |
| NC_000003.10:g.71102610G>A | NCBI36 |
| NG_028243.1:g.618221C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000318789.11:c.1689C>T | ENSP00000318902.5:p.His563= | |
| ENST00000475937.6:c.1128C>T | ENSP00000419393.2:p.His376= | |
| ENST00000491238.8:c.1386C>T | ENSP00000420736.3:p.His462= | |
| ENST00000498215.7:c.1689C>T | ENSP00000418102.1:p.His563= | |
| ENST00000615603.5:n.2120C>T | ||
| ENST00000647829.2:n.1818C>T | ||
| ENST00000648710.2:c.1686C>T | ENSP00000497430.2:p.His562= | |
| ENST00000648748.3:c.1389C>T | ENSP00000497077.3:p.His463= | |
| ENST00000648794.2:c.1386C>T | ENSP00000497435.1:p.His462= | |
| ENST00000649610.2:c.1686C>T | ENSP00000497693.2:p.His562= | |
| ENST00000649695.3:c.1386C>T | ENSP00000496841.3:p.His462= | |
| ENST00000650068.2:c.1689C>T | ENSP00000497454.2:p.His563= | |
| ENST00000318789.10:c.1689C>T | ENSP00000318902.5:p.His563= | |
| ENST00000327590.9:c.*158C>T | ENSP00000333560.4:n.*158C>T | |
| ENST00000468577.6:c.1528-4713C>T | ENSP00000418883.2:n.1528-4713C>T | |
| ENST00000491238.7:c.1386C>T | ENSP00000420736.3:p.His462= | |
| ENST00000493089.7:c.1686C>T | ENSP00000418524.1:p.His562= | |
| ENST00000497355.7:c.1128C>T | ENSP00000418225.3:p.His376= | |
| ENST00000498215.6:c.1689C>T | ENSP00000418102.1:p.His563= | |
| ENST00000614176.5:c.1386C>T | ENSP00000482847.2:p.His462= | |
| ENST00000644199.1:n.2757C>T | ||
| ENST00000647725.1:c.1689C>T | ENSP00000497585.1:p.His563= | |
| ENST00000647741.1:n.3192C>T | ||
| ENST00000648113.1:n.399C>T | ||
| ENST00000648321.1:c.*593C>T | ENSP00000498015.1:n.*593C>T | |
| ENST00000648380.1:c.1689C>T | ENSP00000497344.1:p.His563= | |
| ENST00000648384.1:c.*593C>T | ENSP00000497976.1:n.*593C>T | |
| ENST00000648426.1:c.1737C>T | ENSP00000498110.1:p.His579= | |
| ENST00000648710.1:c.1686C>T | ENSP00000497430.1:p.His562= | |
| ENST00000648718.1:c.1686C>T | ENSP00000496810.1:p.His562= | |
| ENST00000648748.2:c.1386C>T | ENSP00000497077.2:p.His462= | |
| ENST00000648794.1:c.1386C>T | ENSP00000497435.1:p.His462= | |
| ENST00000649081.1:n.3063C>T | ||
| ENST00000649431.1:c.1674C>T | ENSP00000498174.1:p.His558= | |
| ENST00000649513.1:c.1128C>T | ENSP00000497237.1:p.His376= | |
| ENST00000649528.3:c.1689C>T MANE Select | ENSP00000497369.1:p.His563= | |
| ENST00000649592.1:c.1389C>T | ENSP00000496968.1:p.His463= | |
| ENST00000649596.1:c.1683C>T | ENSP00000496932.1:p.His561= | |
| ENST00000649610.1:c.1683C>T | ENSP00000497693.1:p.His561= | |
| ENST00000649631.1:c.1689C>T | ENSP00000496990.1:p.His563= | |
| ENST00000649695.2:c.1389C>T | ENSP00000496841.2:p.His463= | |
| ENST00000650068.1:c.1689C>T | ENSP00000497454.1:p.His563= | |
| ENST00000650123.1:c.2204C>T | ||
| ENST00000650188.1:c.1386C>T | ENSP00000497096.1:p.His462= | |
| ENST00000650387.1:c.1389C>T | ENSP00000497567.1:p.His463= | |
| ENST00000650402.1:c.*34C>T | ENSP00000497563.1:n.*34C>T | |
| ENST00000650580.1:n.2056C>T | ||
| ENST00000674446.1:c.1695C>T | ENSP00000501439.1:p.His565= | |
| ENST00000318789.8:c.1689C>T | ENSP00000318902.4:p.His563= | |
| ENST00000327590.8:c.*158C>T | ENSP00000333560.4:n.*158C>T | |
| ENST00000468577.5:c.1531-4713C>T | ENSP00000418883.1:n.1531-4713C>T | |
| ENST00000475937.5:c.1689C>T | ENSP00000419393.1:p.His563= | |
| ENST00000484350.5:c.1461C>T | ENSP00000417857.1:p.His487= | |
| ENST00000491238.5:c.1695C>T | ENSP00000420736.1:p.His565= | |
| ENST00000493089.5:c.1686C>T | ENSP00000418524.1:p.His562= | |
| ENST00000497355.5:c.1377C>T | ENSP00000418225.1:p.His459= | |
| ENST00000498215.5:c.1689C>T | ENSP00000418102.1:p.His563= | |
| ENST00000614176.4:c.1389C>T | ENSP00000482847.1:p.His463= | |
| ENST00000614183.1:n.540C>T | ||
| ENST00000615603.4:c.1737C>T | ENSP00000484803.1:p.His579= | |
| NM_001244808.1:c.1686C>T | NP_001231737.1:p.His562= | |
| NM_001244810.1:c.1737C>T | NP_001231739.1:p.His579= | |
| NM_001244812.1:c.1461C>T | NP_001231741.1:p.His487= | |
| NM_001244813.1:c.1389C>T | NP_001231742.1:p.His463= | |
| NM_001244814.1:c.1689C>T | NP_001231743.1:p.His563= | |
| NM_001244815.1:c.1695C>T | NP_001231744.1:p.His565= | |
| NM_001244816.1:c.1689C>T | NP_001231745.1:p.His563= | |
| NM_032682.5:c.1689C>T | NP_116071.2:p.His563= | |
| XM_005264735.2:c.1692C>T | XP_005264792.1:p.His564= | |
| XM_005264736.2:c.1692C>T | XP_005264793.1:p.His564= | |
| XM_005264737.3:c.1686C>T | XP_005264794.1:p.His562= | |
| XM_005264742.2:c.1386C>T | XP_005264799.1:p.His462= | |
| XM_006713102.1:c.1689C>T | XP_006713165.1:p.His563= | |
| XM_006713103.1:c.1689C>T | XP_006713166.1:p.His563= | |
| XM_006713104.1:c.1689C>T | XP_006713167.1:p.His563= | |
| XM_011533584.1:c.1689C>T | XP_011531886.1:p.His563= | |
| XM_011533585.1:c.1689C>T | XP_011531887.1:p.His563= | |
| XM_011533586.1:c.1689C>T | XP_011531888.1:p.His563= | |
| XM_011533587.1:c.1689C>T | XP_011531889.1:p.His563= | |
| XM_011533588.1:c.1389C>T | XP_011531890.1:p.His463= | |
| XR_427266.2:n.5521C>T | ||
| XR_940413.1:n.2123C>T | ||
| XR_940414.1:n.5671C>T | ||
| NM_001349337.1:c.1692C>T | NP_001336266.1:p.His564= | |
| NM_001349338.1:c.1689C>T | NP_001336267.1:p.His563= | |
| NM_001349340.1:c.1689C>T | NP_001336269.1:p.His563= | |
| NM_001349341.1:c.1686C>T | NP_001336270.1:p.His562= | |
| NM_001349342.1:c.1389C>T | NP_001336271.1:p.His463= | |
| NM_001349343.1:c.1386C>T | NP_001336272.1:p.His462= | |
| NM_001349344.1:c.1386C>T | NP_001336273.1:p.His462= | |
| NR_146142.1:n.2230C>T | ||
| NR_146143.1:n.2227C>T | ||
| XM_005264736.3:c.1692C>T | XP_005264793.1:p.His564= | |
| XM_006713102.2:c.1689C>T | XP_006713165.1:p.His563= | |
| XM_006713103.2:c.1689C>T | XP_006713166.1:p.His563= | |
| XM_006713104.2:c.1689C>T | XP_006713167.1:p.His563= | |
| XM_011533585.3:c.1689C>T | XP_011531887.1:p.His563= | |
| XM_017006165.1:c.1689C>T | XP_016861654.1:p.His563= | |
| XM_017006167.1:c.1689C>T | XP_016861656.1:p.His563= | |
| XR_001740102.1:n.2050C>T | ||
| NM_001244808.2:c.1686C>T | NP_001231737.1:p.His562= | |
| NM_001244812.2:c.1461C>T | NP_001231741.1:p.His487= | |
| NM_001244813.2:c.1389C>T | NP_001231742.1:p.His463= | |
| NM_001244814.2:c.1689C>T | NP_001231743.1:p.His563= | |
| NM_001244815.2:c.1389C>T | NP_001231744.2:p.His463= | |
| NM_001349337.2:c.1386C>T | NP_001336266.2:p.His462= | |
| NM_001349338.2:c.1689C>T | NP_001336267.1:p.His563= | |
| NM_001349340.2:c.1689C>T | NP_001336269.1:p.His563= | |
| NM_001349341.2:c.1686C>T | NP_001336270.1:p.His562= | |
| NM_001349342.2:c.1389C>T | NP_001336271.1:p.His463= | |
| NM_001349343.2:c.1386C>T | NP_001336272.1:p.His462= | |
| NM_001349344.2:c.1386C>T | NP_001336273.1:p.His462= | |
| NM_001370548.1:c.1386C>T | NP_001357477.1:p.His462= | |
| NM_032682.6:c.1689C>T | NP_116071.2:p.His563= | |
| NR_146142.2:n.2205C>T | ||
| NR_146143.2:n.2202C>T | ||
| NM_001244808.3:c.1686C>T | NP_001231737.1:p.His562= | |
| NM_001244810.2:c.1737C>T | NP_001231739.1:p.His579= | |
| NM_001244812.3:c.1461C>T | NP_001231741.1:p.His487= | |
| NM_001244813.3:c.1389C>T | NP_001231742.1:p.His463= | |
| NM_001244814.3:c.1689C>T | NP_001231743.1:p.His563= | |
| NM_001244816.2:c.1689C>T | NP_001231745.1:p.His563= | |
| NM_001349338.3:c.1689C>T MANE Select | NP_001336267.1:p.His563= | |
| NM_001349340.3:c.1689C>T | NP_001336269.1:p.His563= | |
| NM_001349341.3:c.1686C>T | NP_001336270.1:p.His562= | |
| NM_001349342.3:c.1389C>T | NP_001336271.1:p.His463= | |
| NM_001349343.3:c.1386C>T | NP_001336272.1:p.His462= | |
| NM_001349344.3:c.1386C>T | NP_001336273.1:p.His462= | |
| NR_146142.3:n.2205C>T | ||
| NR_146143.3:n.2202C>T |