Linked Data
ClinVar Variation Id:
329529
dbSNP Id:
rs201127596
ExAC:
19:45872326 A / T
gnomAD v2:
19-45872326-A-T
gnomAD v3:
19-45369068-A-T
gnomAD v4:
19-45369068-A-T
PubMed:
PMID:7585650
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.45369068A>T , CM000681.2:g.45369068A>T | GRCh38 |
| NC_000019.9:g.45872326A>T , CM000681.1:g.45872326A>T | GRCh37 |
| NC_000019.8:g.50564166A>T | NCBI36 |
| NG_007067.2:g.6520T>A , LRG_461:g.6520T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000391944.8:c.183+2T>A | ENSP00000375808.4:n.183+2T>A | |
| ENST00000682414.1:c.183+2T>A | ENSP00000507019.1:n.183+2T>A | |
| ENST00000682508.1:n.137T>A | ||
| ENST00000684218.1:c.183+2T>A | ENSP00000507804.1:n.183+2T>A | |
| ENST00000684407.1:c.60+2T>A | ENSP00000507775.1:n.60+2T>A | |
| ENST00000684458.1:c.183+2T>A | ENSP00000508260.1:n.183+2T>A | |
| ENST00000391945.10:c.183+2T>A MANE Select | ENSP00000375809.4:n.183+2T>A | |
| ENST00000586131.6:c.111+2T>A | ENSP00000464887.1:n.111+2T>A | |
| ENST00000646507.1:n.205T>A | ||
| ENST00000391941.6:c.111+2T>A | ENSP00000375805.2:n.111+2T>A | |
| ENST00000391944.7:c.183+2T>A | ENSP00000375808.3:n.183+2T>A | |
| ENST00000391945.8:c.183+2T>A | ENSP00000375809.3:n.183+2T>A | |
| ENST00000485403.6:c.111+2T>A | ENSP00000431229.2:n.111+2T>A | |
| ENST00000586131.5:c.111+2T>A | ENSP00000464887.1:n.111+2T>A | |
| ENST00000586441.1:n.100T>A | ||
| ENST00000586737.5:n.100T>A | ||
| ENST00000586856.1:c.34-76T>A | ENSP00000466998.1:n.34-76T>A | |
| ENST00000591309.5:c.183+2T>A | ENSP00000465207.1:n.183+2T>A | |
| NM_000400.3:c.183+2T>A , LRG_461t1:c.183+2T>A | NP_000391.1:n.183+2T>A | |
| NM_001130867.1:c.111+2T>A | NP_001124339.1:n.111+2T>A | |
| XM_011526611.1:c.106-76T>A | XP_011524913.1:n.106-76T>A | |
| XR_935763.1:n.230+2T>A | ||
| XM_011526611.2:c.106-76T>A | XP_011524913.1:n.106-76T>A | |
| XM_017026467.1:c.60+2T>A | XP_016881956.1:n.60+2T>A | |
| XR_001753633.2:n.230+2T>A | ||
| XR_001753634.2:n.230+2T>A | ||
| NM_000400.4:c.183+2T>A MANE Select | NP_000391.1:n.183+2T>A | |
| NM_001130867.2:c.111+2T>A | NP_001124339.1:n.111+2T>A |