Linked Data
dbSNP Id:
rs761419332
ExAC:
19:55666236 A / T
gnomAD v2:
19-55666236-A-T
gnomAD v4:
19-55154868-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.55154868A>T , CM000681.2:g.55154868A>T | GRCh38 |
| NC_000019.9:g.55666236A>T , CM000681.1:g.55666236A>T | GRCh37 |
| NC_000019.8:g.60358048A>T | NCBI36 |
| NG_007866.2:g.7865T>A , LRG_432:g.7865T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000344887.10:c.283-38T>A MANE Select | ENSP00000341838.5:n.283-38T>A | |
| ENST00000665070.1:c.283-38T>A | ENSP00000499482.1:n.283-38T>A | |
| ENST00000344887.9:c.283-38T>A | ENSP00000341838.5:n.283-38T>A | |
| ENST00000585806.5:n.282-38T>A | ||
| ENST00000586669.5:n.291-38T>A | ||
| ENST00000587176.5:n.467-38T>A | ||
| ENST00000587871.1:c.902-38T>A | ||
| ENST00000588882.1:c.208-38T>A | ENSP00000466729.1:n.208-38T>A | |
| ENST00000590463.1:n.455-38T>A | ||
| NM_000363.4:c.283-38T>A , LRG_432t1:c.283-38T>A | NP_000354.4:n.283-38T>A | |
| NM_000363.5:c.283-38T>A MANE Select | NP_000354.4:n.283-38T>A |