Linked Data
dbSNP Id:
rs547717616
gnomAD v2:
20-3650078-G-A
gnomAD v3:
20-3669431-G-A
gnomAD v4:
20-3669431-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669431G>A , CM000682.2:g.3669431G>A | GRCh38 |
| NC_000020.10:g.3650078G>A , CM000682.1:g.3650078G>A | GRCh37 |
| NC_000020.9:g.3598078G>A | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2333-61C>T MANE Select | ENSP00000348912.3:n.2333-61C>T | |
| ENST00000350009.6:c.2255-61C>T | ENSP00000322550.5:n.2255-61C>T | |
| ENST00000356518.6:c.2333-61C>T | ENSP00000348912.2:n.2333-61C>T | |
| ENST00000379861.8:c.2333-61C>T | ENSP00000369190.4:n.2333-61C>T | |
| ENST00000466620.5:n.1894-61C>T | ||
| ENST00000483362.1:n.1195C>T | ||
| ENST00000617732.1:c.*1020-61C>T | ENSP00000483343.1:n.*1020-61C>T | |
| ENST00000619289.4:c.1973-61C>T | ENSP00000484600.1:n.1973-61C>T | |
| NM_001282447.1:c.2333-61C>T | NP_001269376.1:n.2333-61C>T | |
| NM_025220.3:c.2333-61C>T | NP_079496.1:n.2333-61C>T | |
| NM_153202.2:c.2255-61C>T | NP_694882.1:n.2255-61C>T | |
| XM_005260843.1:c.2372-61C>T | XP_005260900.1:n.2372-61C>T | |
| XM_006723639.1:c.2372-61C>T | XP_006723702.1:n.2372-61C>T | |
| XM_006723640.1:c.2363-61C>T | XP_006723703.1:n.2363-61C>T | |
| XM_011529366.1:c.2369-61C>T | XP_011527668.1:n.2369-61C>T | |
| XM_011529367.1:c.2330-61C>T | XP_011527669.1:n.2330-61C>T | |
| XM_011529368.1:c.2294-61C>T | XP_011527670.1:n.2294-61C>T | |
| XM_011529373.1:c.1370-61C>T | XP_011527675.1:n.1370-61C>T | |
| XR_937151.1:n.2384-61C>T | ||
| XR_937152.1:n.2384-61C>T | ||
| XR_937153.1:n.2357-61C>T | ||
| XR_937154.1:n.2357-61C>T | ||
| XR_937155.1:n.2278-61C>T | ||
| XR_937157.1:n.2280-61C>T | ||
| NM_001282447.2:c.2333-61C>T | NP_001269376.1:n.2333-61C>T | |
| NM_025220.4:c.2333-61C>T | NP_079496.1:n.2333-61C>T | |
| NM_153202.3:c.2255-61C>T | NP_694882.1:n.2255-61C>T | |
| XM_011529373.2:c.1370-61C>T | XP_011527675.1:n.1370-61C>T | |
| XR_001754405.1:n.2444-61C>T | ||
| XR_002958534.1:n.2553-61C>T | ||
| NM_001282447.3:c.2333-61C>T | NP_001269376.1:n.2333-61C>T | |
| NM_025220.5:c.2333-61C>T MANE Select | NP_079496.1:n.2333-61C>T | |
| NM_153202.4:c.2255-61C>T | NP_694882.1:n.2255-61C>T |