Linked Data
ClinVar Variation Id:
509158
dbSNP Id:
rs199694630
ExAC:
19:10251020 C / T
gnomAD v2:
19-10251020-C-T
gnomAD v3:
19-10140344-C-T
gnomAD v4:
19-10140344-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.10140344C>T , CM000681.2:g.10140344C>T | GRCh38 |
| NC_000019.9:g.10251020C>T , CM000681.1:g.10251020C>T | GRCh37 |
| NC_000019.8:g.10112020C>T | NCBI36 |
| NG_028016.3:g.95943G>A , LRG_362:g.95943G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000359526.9:c.3524-16G>A MANE Select | ENSP00000352516.3:n.3524-16G>A | |
| ENST00000586667.2:n.1559-16G>A | ||
| ENST00000589351.6:n.1396G>A | ||
| ENST00000676604.1:n.3136-16G>A | ||
| ENST00000676610.1:c.3476-16G>A | ENSP00000504236.1:n.3476-16G>A | |
| ENST00000676820.1:n.4370-16G>A | ||
| ENST00000676868.1:n.4160-16G>A | ||
| ENST00000677013.1:c.*3166-16G>A | ENSP00000503135.1:n.*3166-16G>A | |
| ENST00000677250.1:c.*2596-16G>A | ENSP00000502894.1:n.*2596-16G>A | |
| ENST00000677616.1:c.3167-16G>A | ENSP00000503055.1:n.3167-16G>A | |
| ENST00000677634.1:c.*79-16G>A | ENSP00000504246.1:n.*79-16G>A | |
| ENST00000677685.1:c.*2701-16G>A | ENSP00000503407.1:n.*2701-16G>A | |
| ENST00000677783.1:n.4784-16G>A | ||
| ENST00000677946.1:c.3476-16G>A | ENSP00000504202.1:n.3476-16G>A | |
| ENST00000678024.1:n.4457-16G>A | ||
| ENST00000678107.1:n.275G>A | ||
| ENST00000678239.1:n.124G>A | ||
| ENST00000678647.1:n.1609-16G>A | ||
| ENST00000678694.1:n.2797-16G>A | ||
| ENST00000678804.1:c.3476-16G>A | ENSP00000503853.1:n.3476-16G>A | |
| ENST00000678957.1:n.960-16G>A | ||
| ENST00000679100.1:n.1663-16G>A | ||
| ENST00000679103.1:c.3476-16G>A | ENSP00000503151.1:n.3476-16G>A | |
| ENST00000679313.1:c.3476-16G>A | ENSP00000504512.1:n.3476-16G>A | |
| ENST00000340748.8:c.3476-16G>A | ENSP00000345739.3:n.3476-16G>A | |
| ENST00000359526.8:c.3524-16G>A | ENSP00000352516.3:n.3524-16G>A | |
| ENST00000540357.5:c.2468-16G>A | ENSP00000440457.2:n.2468-16G>A | |
| ENST00000586588.5:n.1397-16G>A | ||
| ENST00000589351.5:n.598-16G>A | ||
| ENST00000589538.5:n.544-299G>A | ||
| ENST00000592705.5:c.*3214-16G>A | ENSP00000466657.1:n.*3214-16G>A | |
| ENST00000593049.5:n.486-16G>A | ||
| NM_001130823.1:c.3524-16G>A , LRG_362t1:c.3524-16G>A | NP_001124295.1:n.3524-16G>A | |
| NM_001379.2:c.3476-16G>A | NP_001370.1:n.3476-16G>A | |
| XM_011527772.1:c.3524-16G>A | XP_011526074.1:n.3524-16G>A | |
| XM_011527773.1:c.3476-16G>A | XP_011526075.1:n.3476-16G>A | |
| XM_011527774.1:c.3113-16G>A | XP_011526076.1:n.3113-16G>A | |
| NM_001130823.2:c.3524-16G>A | NP_001124295.1:n.3524-16G>A | |
| NM_001318730.1:c.3476-16G>A | NP_001305659.1:n.3476-16G>A | |
| NM_001318731.1:c.3161-16G>A | NP_001305660.1:n.3161-16G>A | |
| NM_001379.3:c.3476-16G>A | NP_001370.1:n.3476-16G>A | |
| NM_001130823.3:c.3524-16G>A MANE Select | NP_001124295.1:n.3524-16G>A | |
| NM_001318730.2:c.3476-16G>A | NP_001305659.1:n.3476-16G>A | |
| NM_001318731.2:c.3161-16G>A | NP_001305660.1:n.3161-16G>A | |
| NM_001379.4:c.3476-16G>A | NP_001370.1:n.3476-16G>A |