Linked Data
dbSNP Id:
rs543749
ExAC:
20:3649679 G / T
gnomAD v2:
20-3649679-G-T
gnomAD v3:
20-3669032-G-T
gnomAD v4:
20-3669032-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000020.11:g.3669032G>T , CM000682.2:g.3669032G>T | GRCh38 |
| NC_000020.10:g.3649679G>T , CM000682.1:g.3649679G>T | GRCh37 |
| NC_000020.9:g.3597679G>T | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000356518.7:c.2405-32C>A MANE Select | ENSP00000348912.3:n.2405-32C>A | |
| ENST00000350009.6:c.2327-32C>A | ENSP00000322550.5:n.2327-32C>A | |
| ENST00000356518.6:c.2405-32C>A | ENSP00000348912.2:n.2405-32C>A | |
| ENST00000379861.8:c.2405-35C>A | ENSP00000369190.4:n.2405-35C>A | |
| ENST00000466620.5:n.1966-32C>A | ||
| ENST00000483362.1:n.1328-32C>A | ||
| ENST00000617732.1:c.*1092-35C>A | ENSP00000483343.1:n.*1092-35C>A | |
| ENST00000619289.4:c.2045-35C>A | ENSP00000484600.1:n.2045-35C>A | |
| NM_001282447.1:c.2405-35C>A | NP_001269376.1:n.2405-35C>A | |
| NM_025220.3:c.2405-32C>A | NP_079496.1:n.2405-32C>A | |
| NM_153202.2:c.2327-32C>A | NP_694882.1:n.2327-32C>A | |
| XM_005260843.1:c.2444-32C>A | XP_005260900.1:n.2444-32C>A | |
| XM_006723639.1:c.2444-35C>A | XP_006723702.1:n.2444-35C>A | |
| XM_006723640.1:c.2435-32C>A | XP_006723703.1:n.2435-32C>A | |
| XM_011529366.1:c.2441-32C>A | XP_011527668.1:n.2441-32C>A | |
| XM_011529367.1:c.2402-32C>A | XP_011527669.1:n.2402-32C>A | |
| XM_011529368.1:c.2366-32C>A | XP_011527670.1:n.2366-32C>A | |
| XM_011529373.1:c.1442-32C>A | XP_011527675.1:n.1442-32C>A | |
| XR_937151.1:n.2456-32C>A | ||
| XR_937152.1:n.2456-35C>A | ||
| XR_937153.1:n.2429-35C>A | ||
| XR_937154.1:n.2429-35C>A | ||
| XR_937155.1:n.2350-35C>A | ||
| XR_937157.1:n.2352-35C>A | ||
| NM_001282447.2:c.2405-35C>A | NP_001269376.1:n.2405-35C>A | |
| NM_025220.4:c.2405-32C>A | NP_079496.1:n.2405-32C>A | |
| NM_153202.3:c.2327-32C>A | NP_694882.1:n.2327-32C>A | |
| XM_011529373.2:c.1442-32C>A | XP_011527675.1:n.1442-32C>A | |
| XR_001754405.1:n.2516-35C>A | ||
| XR_002958534.1:n.2625-35C>A | ||
| NM_001282447.3:c.2405-35C>A | NP_001269376.1:n.2405-35C>A | |
| NM_025220.5:c.2405-32C>A MANE Select | NP_079496.1:n.2405-32C>A | |
| NM_153202.4:c.2327-32C>A | NP_694882.1:n.2327-32C>A |