Linked Data
dbSNP Id:
rs1340712694
gnomAD v2:
20-3652077-G-A
gnomAD v3:
20-3671430-G-A
gnomAD v4:
20-3671430-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671430G>A , CM000682.2:g.3671430G>A | GRCh38 |
| NC_000020.10:g.3652077G>A , CM000682.1:g.3652077G>A | GRCh37 |
| NC_000020.9:g.3600077G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1972C>T MANE Select | ENSP00000348912.3:p.His658Tyr | |
| ENST00000350009.6:c.1906-85C>T | ENSP00000322550.5:n.1906-85C>T | |
| ENST00000356518.6:c.1972C>T | ENSP00000348912.2:p.His658Tyr | |
| ENST00000379861.8:c.1972C>T | ENSP00000369190.4:p.His658Tyr | |
| ENST00000466620.5:n.1545-85C>T | ||
| ENST00000617732.1:c.*659C>T | ENSP00000483343.1:n.*659C>T | |
| ENST00000619289.4:c.1612C>T | ENSP00000484600.1:p.His538Tyr | |
| NM_001282447.1:c.1972C>T | NP_001269376.1:p.His658Tyr | |
| NM_025220.3:c.1972C>T | NP_079496.1:p.His658Tyr | |
| NM_153202.2:c.1906-85C>T | NP_694882.1:n.1906-85C>T | |
| XM_005260843.1:c.2011C>T | XP_005260900.1:p.His671Tyr | |
| XM_006723639.1:c.2011C>T | XP_006723702.1:p.His671Tyr | |
| XM_006723640.1:c.2002C>T | XP_006723703.1:p.His668Tyr | |
| XM_011529366.1:c.2008C>T | XP_011527668.1:p.His670Tyr | |
| XM_011529367.1:c.1969C>T | XP_011527669.1:p.His657Tyr | |
| XM_011529368.1:c.1945-85C>T | XP_011527670.1:n.1945-85C>T | |
| XM_011529369.1:c.*71C>T | XP_011527671.1:n.*71C>T | |
| XM_011529370.1:c.*5-85C>T | XP_011527672.1:n.*5-85C>T | |
| XM_011529373.1:c.1009C>T | XP_011527675.1:p.His337Tyr | |
| XR_937151.1:n.2115C>T | ||
| XR_937152.1:n.2115C>T | ||
| XR_937153.1:n.1996C>T | ||
| XR_937154.1:n.1996C>T | ||
| XR_937155.1:n.1917C>T | ||
| XR_937157.1:n.1919C>T | ||
| NM_001282447.2:c.1972C>T | NP_001269376.1:p.His658Tyr | |
| NM_025220.4:c.1972C>T | NP_079496.1:p.His658Tyr | |
| NM_153202.3:c.1906-85C>T | NP_694882.1:n.1906-85C>T | |
| XM_011529373.2:c.1009C>T | XP_011527675.1:p.His337Tyr | |
| XR_001754405.1:n.2083C>T | ||
| XR_002958534.1:n.2192C>T | ||
| NM_001282447.3:c.1972C>T | NP_001269376.1:p.His658Tyr | |
| NM_025220.5:c.1972C>T MANE Select | NP_079496.1:p.His658Tyr | |
| NM_153202.4:c.1906-85C>T | NP_694882.1:n.1906-85C>T |