Linked Data
ClinVar Variation Id:
729623
ClinVar RCV Id:
RCV000904298
dbSNP Id:
rs147783607
ExAC:
20:3650257 G / A
gnomAD v2:
20-3650257-G-A
gnomAD v3:
20-3669610-G-A
gnomAD v4:
20-3669610-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669610G>A , CM000682.2:g.3669610G>A | GRCh38 |
| NC_000020.10:g.3650257G>A , CM000682.1:g.3650257G>A | GRCh37 |
| NC_000020.9:g.3598257G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2268C>T MANE Select | ENSP00000348912.3:p.His756= | |
| ENST00000350009.6:c.2190C>T | ENSP00000322550.5:p.His730= | |
| ENST00000356518.6:c.2268C>T | ENSP00000348912.2:p.His756= | |
| ENST00000379861.8:c.2268C>T | ENSP00000369190.4:p.His756= | |
| ENST00000466620.5:n.1829C>T | ||
| ENST00000483362.1:n.1016C>T | ||
| ENST00000617732.1:c.*955C>T | ENSP00000483343.1:n.*955C>T | |
| ENST00000619289.4:c.1908C>T | ENSP00000484600.1:p.His636= | |
| NM_001282447.1:c.2268C>T | NP_001269376.1:p.His756= | |
| NM_025220.3:c.2268C>T | NP_079496.1:p.His756= | |
| NM_153202.2:c.2190C>T | NP_694882.1:p.His730= | |
| XM_005260843.1:c.2307C>T | XP_005260900.1:p.His769= | |
| XM_006723639.1:c.2307C>T | XP_006723702.1:p.His769= | |
| XM_006723640.1:c.2298C>T | XP_006723703.1:p.His766= | |
| XM_011529366.1:c.2304C>T | XP_011527668.1:p.His768= | |
| XM_011529367.1:c.2265C>T | XP_011527669.1:p.His755= | |
| XM_011529368.1:c.2229C>T | XP_011527670.1:p.His743= | |
| XM_011529373.1:c.1305C>T | XP_011527675.1:p.His435= | |
| XR_937151.1:n.2384-240C>T | ||
| XR_937152.1:n.2384-240C>T | ||
| XR_937153.1:n.2292C>T | ||
| XR_937154.1:n.2292C>T | ||
| XR_937155.1:n.2213C>T | ||
| XR_937157.1:n.2215C>T | ||
| NM_001282447.2:c.2268C>T | NP_001269376.1:p.His756= | |
| NM_025220.4:c.2268C>T | NP_079496.1:p.His756= | |
| NM_153202.3:c.2190C>T | NP_694882.1:p.His730= | |
| XM_011529373.2:c.1305C>T | XP_011527675.1:p.His435= | |
| XR_001754405.1:n.2379C>T | ||
| XR_002958534.1:n.2488C>T | ||
| NM_001282447.3:c.2268C>T | NP_001269376.1:p.His756= | |
| NM_025220.5:c.2268C>T MANE Select | NP_079496.1:p.His756= | |
| NM_153202.4:c.2190C>T | NP_694882.1:p.His730= |