Linked Data
dbSNP Id:
rs1568794629
gnomAD v2:
20-3650249-C-A
gnomAD v3:
20-3669602-C-A
gnomAD v4:
20-3669602-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669602C>A , CM000682.2:g.3669602C>A | GRCh38 |
| NC_000020.10:g.3650249C>A , CM000682.1:g.3650249C>A | GRCh37 |
| NC_000020.9:g.3598249C>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2276G>T MANE Select | ENSP00000348912.3:p.Gly759Val | |
| ENST00000350009.6:c.2198G>T | ENSP00000322550.5:p.Gly733Val | |
| ENST00000356518.6:c.2276G>T | ENSP00000348912.2:p.Gly759Val | |
| ENST00000379861.8:c.2276G>T | ENSP00000369190.4:p.Gly759Val | |
| ENST00000466620.5:n.1837G>T | ||
| ENST00000483362.1:n.1024G>T | ||
| ENST00000617732.1:c.*963G>T | ENSP00000483343.1:n.*963G>T | |
| ENST00000619289.4:c.1916G>T | ENSP00000484600.1:p.Gly639Val | |
| NM_001282447.1:c.2276G>T | NP_001269376.1:p.Gly759Val | |
| NM_025220.3:c.2276G>T | NP_079496.1:p.Gly759Val | |
| NM_153202.2:c.2198G>T | NP_694882.1:p.Gly733Val | |
| XM_005260843.1:c.2315G>T | XP_005260900.1:p.Gly772Val | |
| XM_006723639.1:c.2315G>T | XP_006723702.1:p.Gly772Val | |
| XM_006723640.1:c.2306G>T | XP_006723703.1:p.Gly769Val | |
| XM_011529366.1:c.2312G>T | XP_011527668.1:p.Gly771Val | |
| XM_011529367.1:c.2273G>T | XP_011527669.1:p.Gly758Val | |
| XM_011529368.1:c.2237G>T | XP_011527670.1:p.Gly746Val | |
| XM_011529373.1:c.1313G>T | XP_011527675.1:p.Gly438Val | |
| XR_937151.1:n.2384-232G>T | ||
| XR_937152.1:n.2384-232G>T | ||
| XR_937153.1:n.2300G>T | ||
| XR_937154.1:n.2300G>T | ||
| XR_937155.1:n.2221G>T | ||
| XR_937157.1:n.2223G>T | ||
| NM_001282447.2:c.2276G>T | NP_001269376.1:p.Gly759Val | |
| NM_025220.4:c.2276G>T | NP_079496.1:p.Gly759Val | |
| NM_153202.3:c.2198G>T | NP_694882.1:p.Gly733Val | |
| XM_011529373.2:c.1313G>T | XP_011527675.1:p.Gly438Val | |
| XR_001754405.1:n.2387G>T | ||
| XR_002958534.1:n.2496G>T | ||
| NM_001282447.3:c.2276G>T | NP_001269376.1:p.Gly759Val | |
| NM_025220.5:c.2276G>T MANE Select | NP_079496.1:p.Gly759Val | |
| NM_153202.4:c.2198G>T | NP_694882.1:p.Gly733Val |