Linked Data
dbSNP Id:
rs754164412
ExAC:
20:3652114 A / G
gnomAD v2:
20-3652114-A-G
gnomAD v3:
20-3671467-A-G
gnomAD v4:
20-3671467-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3671467A>G , CM000682.2:g.3671467A>G | GRCh38 |
| NC_000020.10:g.3652114A>G , CM000682.1:g.3652114A>G | GRCh37 |
| NC_000020.9:g.3600114A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.1935T>C MANE Select | ENSP00000348912.3:p.Asn645= | |
| ENST00000350009.6:c.1905+114T>C | ENSP00000322550.5:n.1905+114T>C | |
| ENST00000356518.6:c.1935T>C | ENSP00000348912.2:p.Asn645= | |
| ENST00000379861.8:c.1935T>C | ENSP00000369190.4:p.Asn645= | |
| ENST00000466620.5:n.1544+114T>C | ||
| ENST00000617732.1:c.*632-10T>C | ENSP00000483343.1:n.*632-10T>C | |
| ENST00000619289.4:c.1575T>C | ENSP00000484600.1:p.Asn525= | |
| NM_001282447.1:c.1935T>C | NP_001269376.1:p.Asn645= | |
| NM_025220.3:c.1935T>C | NP_079496.1:p.Asn645= | |
| NM_153202.2:c.1905+114T>C | NP_694882.1:n.1905+114T>C | |
| XM_005260843.1:c.1974T>C | XP_005260900.1:p.Asn658= | |
| XM_006723639.1:c.1974T>C | XP_006723702.1:p.Asn658= | |
| XM_006723640.1:c.1965T>C | XP_006723703.1:p.Asn655= | |
| XM_011529366.1:c.1971T>C | XP_011527668.1:p.Asn657= | |
| XM_011529367.1:c.1932T>C | XP_011527669.1:p.Asn644= | |
| XM_011529368.1:c.1944+114T>C | XP_011527670.1:n.1944+114T>C | |
| XM_011529369.1:c.*34T>C | XP_011527671.1:n.*34T>C | |
| XM_011529370.1:c.*4+114T>C | XP_011527672.1:n.*4+114T>C | |
| XM_011529373.1:c.972T>C | XP_011527675.1:p.Asn324= | |
| XR_937151.1:n.2078T>C | ||
| XR_937152.1:n.2078T>C | ||
| XR_937153.1:n.1959T>C | ||
| XR_937154.1:n.1959T>C | ||
| XR_937155.1:n.1880T>C | ||
| XR_937157.1:n.1882T>C | ||
| NM_001282447.2:c.1935T>C | NP_001269376.1:p.Asn645= | |
| NM_025220.4:c.1935T>C | NP_079496.1:p.Asn645= | |
| NM_153202.3:c.1905+114T>C | NP_694882.1:n.1905+114T>C | |
| XM_011529373.2:c.972T>C | XP_011527675.1:p.Asn324= | |
| XR_001754405.1:n.2046T>C | ||
| XR_002958534.1:n.2155T>C | ||
| NM_001282447.3:c.1935T>C | NP_001269376.1:p.Asn645= | |
| NM_025220.5:c.1935T>C MANE Select | NP_079496.1:p.Asn645= | |
| NM_153202.4:c.1905+114T>C | NP_694882.1:n.1905+114T>C |