Linked Data
ClinVar Variation Id:
337336
ClinVar RCV Id:
RCV000299945
dbSNP Id:
rs886056393
gnomAD v4:
2-85847967-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.85847967G>A , CM000664.2:g.85847967G>A | GRCh38 |
| NC_000002.11:g.86075090G>A , CM000664.1:g.86075090G>A | GRCh37 |
| NC_000002.10:g.85928601G>A | NCBI36 |
| NG_012807.1:g.46068C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000306262.10:c.*300C>T | ENSP00000306247.6:n.*300C>T | |
| ENST00000377332.8:c.436C>T | ENSP00000366549.4:p.His146Tyr | |
| ENST00000393805.6:c.472C>T | ENSP00000377394.1:p.His158Tyr | |
| ENST00000393808.8:c.487C>T | ENSP00000377397.3:p.His163Tyr | |
| ENST00000638178.1:c.472C>T | ENSP00000492103.1:p.His158Tyr | |
| ENST00000638227.1:c.*599C>T | ENSP00000492602.1:n.*599C>T | |
| ENST00000638288.1:c.*720C>T | ENSP00000491699.1:n.*720C>T | |
| ENST00000638321.1:c.630C>T | ||
| ENST00000638484.1:c.*776C>T | ENSP00000492635.1:n.*776C>T | |
| ENST00000638523.1:c.1211C>T | ||
| ENST00000638542.1:c.444C>T | ENSP00000492468.1:p.Asn148= | |
| ENST00000638572.2:c.556C>T MANE Select | ENSP00000491316.1:p.His186Tyr | |
| ENST00000638581.1:n.582C>T | ||
| ENST00000638659.1:c.622C>T | ||
| ENST00000638678.1:c.554C>T | ||
| ENST00000638855.1:c.444C>T | ENSP00000490979.1:p.Asn148= | |
| ENST00000638885.1:c.*394C>T | ENSP00000492209.1:n.*394C>T | |
| ENST00000638956.1:c.*828C>T | ENSP00000492097.1:n.*828C>T | |
| ENST00000638986.1:c.472C>T | ENSP00000491853.1:p.His158Tyr | |
| ENST00000639074.1:n.2968C>T | ||
| ENST00000639119.1:c.556C>T | ENSP00000492045.1:p.His186Tyr | |
| ENST00000639184.1:c.*720C>T | ENSP00000492305.1:n.*720C>T | |
| ENST00000639202.1:c.202-1404C>T | ENSP00000492710.1:n.202-1404C>T | |
| ENST00000639216.1:n.578C>T | ||
| ENST00000639305.1:c.554C>T | ||
| ENST00000639311.1:c.*346C>T | ENSP00000491398.1:n.*346C>T | |
| ENST00000639421.1:c.1324C>T | ENSP00000491029.1:n.1324C>T | |
| ENST00000639432.1:c.472C>T | ENSP00000491828.1:p.His158Tyr | |
| ENST00000639541.1:c.*912C>T | ENSP00000492280.1:n.*912C>T | |
| ENST00000639608.1:c.*394C>T | ENSP00000492473.1:n.*394C>T | |
| ENST00000639743.1:n.4267C>T | ||
| ENST00000639820.1:c.*990C>T | ENSP00000491802.1:n.*990C>T | |
| ENST00000639867.1:n.2963C>T | ||
| ENST00000639945.1:c.*472C>T | ENSP00000492866.1:n.*472C>T | |
| ENST00000639981.1:c.1043C>T | ||
| ENST00000640024.1:c.*720C>T | ENSP00000491238.1:n.*720C>T | |
| ENST00000640222.1:c.709C>T | ||
| ENST00000640295.1:c.920C>T | ENSP00000491027.1:n.920C>T | |
| ENST00000640314.1:c.599C>T | ENSP00000491315.1:n.599C>T | |
| ENST00000640315.1:c.532C>T | ENSP00000492089.1:p.His178Tyr | |
| ENST00000640322.1:c.472C>T | ENSP00000491564.1:p.His158Tyr | |
| ENST00000640378.1:c.870C>T | ENSP00000492030.1:n.870C>T | |
| ENST00000640418.1:c.613C>T | ENSP00000492098.1:p.His205Tyr | |
| ENST00000640425.1:c.539C>T | ||
| ENST00000640453.1:n.2232C>T | ||
| ENST00000640572.1:c.408C>T | ||
| ENST00000640594.1:c.*599C>T | ENSP00000491356.1:n.*599C>T | |
| ENST00000640712.1:n.2904C>T | ||
| ENST00000640763.1:c.2905C>T | ||
| ENST00000640798.1:n.2171C>T | ||
| ENST00000640835.1:c.615C>T | ||
| ENST00000640849.1:c.592C>T | ENSP00000491701.1:n.592C>T | |
| ENST00000640903.1:c.642C>T | ||
| ENST00000640982.1:c.472C>T | ENSP00000492299.1:p.His158Tyr | |
| ENST00000640992.1:c.472C>T | ENSP00000492753.1:p.His158Tyr | |
| ENST00000306262.9:c.*394C>T | ENSP00000306247.5:n.*394C>T | |
| ENST00000377332.7:c.556C>T | ENSP00000366549.3:p.His186Tyr | |
| ENST00000393805.5:c.472C>T | ENSP00000377394.1:p.His158Tyr | |
| ENST00000393808.7:c.487C>T | ENSP00000377397.3:p.His163Tyr | |
| ENST00000461206.1:n.1610C>T | ||
| NM_001042437.1:c.487C>T | NP_001035902.1:p.His163Tyr | |
| NM_003896.3:c.556C>T | NP_003887.3:p.His186Tyr | |
| XM_005264630.3:c.556C>T | XP_005264687.1:p.His186Tyr | |
| XM_011533143.1:c.172C>T | XP_011531445.1:p.His58Tyr | |
| XR_939734.1:n.641C>T | ||
| NM_001354223.1:c.172C>T | NP_001341152.1:p.His58Tyr | |
| NM_001354224.1:c.172C>T | NP_001341153.1:p.His58Tyr | |
| NM_001354226.1:c.172C>T | NP_001341155.1:p.His58Tyr | |
| NM_001354227.1:c.472C>T | NP_001341156.1:p.His158Tyr | |
| NM_001354229.1:c.472C>T | NP_001341158.1:p.His158Tyr | |
| NM_001354233.1:c.172C>T | NP_001341162.1:p.His58Tyr | |
| NM_001354234.1:c.172C>T | NP_001341163.1:p.His58Tyr | |
| NM_001354238.1:c.472C>T | NP_001341167.1:p.His158Tyr | |
| NM_001354247.1:c.-349C>T | NP_001341176.1:n.-349C>T | |
| NM_001354248.1:c.172C>T | NP_001341177.1:p.His58Tyr | |
| NM_001363847.1:c.556C>T | NP_001350776.1:p.His186Tyr | |
| XM_017005202.2:c.472C>T | XP_016860691.1:p.His158Tyr | |
| XM_017005203.2:c.172C>T | XP_016860692.1:p.His58Tyr | |
| XM_017005204.2:c.172C>T | XP_016860693.1:p.His58Tyr | |
| XM_017005205.2:c.172C>T | XP_016860694.1:p.His58Tyr | |
| XM_017005206.2:c.172C>T | XP_016860695.1:p.His58Tyr | |
| XM_017005208.2:c.172C>T | XP_016860697.1:p.His58Tyr | |
| XM_017005209.1:c.172C>T | XP_016860698.1:p.His58Tyr | |
| XM_017005212.2:c.172C>T | XP_016860701.1:p.His58Tyr | |
| XM_017005213.2:c.172C>T | XP_016860702.1:p.His58Tyr | |
| XM_017005214.2:c.172C>T | XP_016860703.1:p.His58Tyr | |
| XR_001739019.1:n.641C>T | ||
| XR_001739020.1:n.1313C>T | ||
| XR_001739021.1:n.1490C>T | ||
| NM_003896.4:c.556C>T MANE Select | NP_003887.3:p.His186Tyr | |
| NM_001042437.2:c.487C>T | NP_001035902.1:p.His163Tyr | |
| NM_001354223.2:c.172C>T | NP_001341152.1:p.His58Tyr | |
| NM_001354224.2:c.172C>T | NP_001341153.1:p.His58Tyr | |
| NM_001354226.2:c.172C>T | NP_001341155.1:p.His58Tyr | |
| NM_001354227.2:c.472C>T | NP_001341156.1:p.His158Tyr | |
| NM_001354229.2:c.472C>T | NP_001341158.1:p.His158Tyr | |
| NM_001354233.2:c.172C>T | NP_001341162.1:p.His58Tyr |