Linked Data
dbSNP Id:
rs372253608
ExAC:
20:3652069 G / C
gnomAD v2:
20-3652069-G-C
gnomAD v3:
20-3671422-G-C
gnomAD v4:
20-3671422-G-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671422G>C , CM000682.2:g.3671422G>C | GRCh38 |
| NC_000020.10:g.3652069G>C , CM000682.1:g.3652069G>C | GRCh37 |
| NC_000020.9:g.3600069G>C | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000356518.7:c.1980C>G MANE Select | ENSP00000348912.3:p.His660Gln | |
| ENST00000350009.6:c.1906-77C>G | ENSP00000322550.5:n.1906-77C>G | |
| ENST00000356518.6:c.1980C>G | ENSP00000348912.2:p.His660Gln | |
| ENST00000379861.8:c.1980C>G | ENSP00000369190.4:p.His660Gln | |
| ENST00000466620.5:n.1545-77C>G | ||
| ENST00000617732.1:c.*667C>G | ENSP00000483343.1:n.*667C>G | |
| ENST00000619289.4:c.1620C>G | ENSP00000484600.1:p.His540Gln | |
| NM_001282447.1:c.1980C>G | NP_001269376.1:p.His660Gln | |
| NM_025220.3:c.1980C>G | NP_079496.1:p.His660Gln | |
| NM_153202.2:c.1906-77C>G | NP_694882.1:n.1906-77C>G | |
| XM_005260843.1:c.2019C>G | XP_005260900.1:p.His673Gln | |
| XM_006723639.1:c.2019C>G | XP_006723702.1:p.His673Gln | |
| XM_006723640.1:c.2010C>G | XP_006723703.1:p.His670Gln | |
| XM_011529366.1:c.2016C>G | XP_011527668.1:p.His672Gln | |
| XM_011529367.1:c.1977C>G | XP_011527669.1:p.His659Gln | |
| XM_011529368.1:c.1945-77C>G | XP_011527670.1:n.1945-77C>G | |
| XM_011529369.1:c.*79C>G | XP_011527671.1:n.*79C>G | |
| XM_011529370.1:c.*5-77C>G | XP_011527672.1:n.*5-77C>G | |
| XM_011529373.1:c.1017C>G | XP_011527675.1:p.His339Gln | |
| XR_937151.1:n.2123C>G | ||
| XR_937152.1:n.2123C>G | ||
| XR_937153.1:n.2004C>G | ||
| XR_937154.1:n.2004C>G | ||
| XR_937155.1:n.1925C>G | ||
| XR_937157.1:n.1927C>G | ||
| NM_001282447.2:c.1980C>G | NP_001269376.1:p.His660Gln | |
| NM_025220.4:c.1980C>G | NP_079496.1:p.His660Gln | |
| NM_153202.3:c.1906-77C>G | NP_694882.1:n.1906-77C>G | |
| XM_011529373.2:c.1017C>G | XP_011527675.1:p.His339Gln | |
| XR_001754405.1:n.2091C>G | ||
| XR_002958534.1:n.2200C>G | ||
| NM_001282447.3:c.1980C>G | NP_001269376.1:p.His660Gln | |
| NM_025220.5:c.1980C>G MANE Select | NP_079496.1:p.His660Gln | |
| NM_153202.4:c.1906-77C>G | NP_694882.1:n.1906-77C>G |