Linked Data
ClinVar Variation Id:
374062
dbSNP Id:
rs200627037
ExAC:
3:178921589 T / A
gnomAD v2:
3-178921589-T-A
gnomAD v4:
3-179203801-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.179203801T>A , CM000665.2:g.179203801T>A | GRCh38 |
| NC_000003.11:g.178921589T>A , CM000665.1:g.178921589T>A | GRCh37 |
| NC_000003.10:g.180404283T>A | NCBI36 |
| NG_012113.2:g.60279T>A , LRG_310:g.60279T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000263967.4:c.1059+12T>A MANE Select | ENSP00000263967.3:n.1059+12T>A | |
| ENST00000643187.1:c.1059+12T>A | ENSP00000493507.1:n.1059+12T>A | |
| ENST00000674534.1:n.813+12T>A | ||
| ENST00000675467.1:n.3866+12T>A | ||
| ENST00000675786.1:c.1059+12T>A | ENSP00000502323.1:n.1059+12T>A | |
| ENST00000263967.3:c.1059+12T>A | ENSP00000263967.3:n.1059+12T>A | |
| NM_006218.2:c.1059+12T>A , LRG_310t1:c.1059+12T>A | NP_006209.2:n.1059+12T>A | |
| XM_006713658.2:c.1059+12T>A | XP_006713721.1:n.1059+12T>A | |
| XM_011512894.1:c.1059+12T>A | XP_011511196.1:n.1059+12T>A | |
| NM_006218.3:c.1059+12T>A | NP_006209.2:n.1059+12T>A | |
| XM_006713658.4:c.1059+12T>A | XP_006713721.1:n.1059+12T>A | |
| XM_011512894.2:c.1059+12T>A | XP_011511196.1:n.1059+12T>A | |
| NM_006218.4:c.1059+12T>A MANE Select | NP_006209.2:n.1059+12T>A |