Linked Data
dbSNP Id:
rs574174
gnomAD v2:
20-3650694-C-T
gnomAD v3:
20-3670047-C-T
gnomAD v4:
20-3670047-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3670047C>T , CM000682.2:g.3670047C>T | GRCh38 |
| NC_000020.10:g.3650694C>T , CM000682.1:g.3650694C>T | GRCh37 |
| NC_000020.9:g.3598694C>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2241-410G>A MANE Select | ENSP00000348912.3:n.2241-410G>A | |
| ENST00000350009.6:c.2163-410G>A | ENSP00000322550.5:n.2163-410G>A | |
| ENST00000356518.6:c.2241-410G>A | ENSP00000348912.2:n.2241-410G>A | |
| ENST00000379861.8:c.2241-410G>A | ENSP00000369190.4:n.2241-410G>A | |
| ENST00000466620.5:n.1802-410G>A | ||
| ENST00000483362.1:n.579G>A | ||
| ENST00000617732.1:c.*928-410G>A | ENSP00000483343.1:n.*928-410G>A | |
| ENST00000619289.4:c.1881-410G>A | ENSP00000484600.1:n.1881-410G>A | |
| NM_001282447.1:c.2241-410G>A | NP_001269376.1:n.2241-410G>A | |
| NM_025220.3:c.2241-410G>A | NP_079496.1:n.2241-410G>A | |
| NM_153202.2:c.2163-410G>A | NP_694882.1:n.2163-410G>A | |
| XM_005260843.1:c.2280-410G>A | XP_005260900.1:n.2280-410G>A | |
| XM_006723639.1:c.2280-410G>A | XP_006723702.1:n.2280-410G>A | |
| XM_006723640.1:c.2271-410G>A | XP_006723703.1:n.2271-410G>A | |
| XM_011529366.1:c.2277-410G>A | XP_011527668.1:n.2277-410G>A | |
| XM_011529367.1:c.2238-410G>A | XP_011527669.1:n.2238-410G>A | |
| XM_011529368.1:c.2202-410G>A | XP_011527670.1:n.2202-410G>A | |
| XM_011529373.1:c.1278-410G>A | XP_011527675.1:n.1278-410G>A | |
| XR_937151.1:n.2384-677G>A | ||
| XR_937152.1:n.2384-677G>A | ||
| XR_937153.1:n.2265-410G>A | ||
| XR_937154.1:n.2265-410G>A | ||
| XR_937155.1:n.2186-410G>A | ||
| XR_937157.1:n.2188-410G>A | ||
| NM_001282447.2:c.2241-410G>A | NP_001269376.1:n.2241-410G>A | |
| NM_025220.4:c.2241-410G>A | NP_079496.1:n.2241-410G>A | |
| NM_153202.3:c.2163-410G>A | NP_694882.1:n.2163-410G>A | |
| XM_011529373.2:c.1278-410G>A | XP_011527675.1:n.1278-410G>A | |
| XR_001754405.1:n.2352-410G>A | ||
| XR_002958534.1:n.2461-410G>A | ||
| NM_001282447.3:c.2241-410G>A | NP_001269376.1:n.2241-410G>A | |
| NM_025220.5:c.2241-410G>A MANE Select | NP_079496.1:n.2241-410G>A | |
| NM_153202.4:c.2163-410G>A | NP_694882.1:n.2163-410G>A |