Linked Data
ClinVar Variation Id:
1922923
ClinVar RCV Id:
RCV002617866
dbSNP Id:
rs760294585
ExAC:
16:18812734 A / T
gnomAD v2:
16-18812734-A-T
gnomAD v3:
16-18801412-A-T
gnomAD v4:
16-18801412-A-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18801412A>T , CM000678.2:g.18801412A>T | GRCh38 |
| NC_000016.9:g.18812734A>T , CM000678.1:g.18812734A>T | GRCh37 |
| NC_000016.8:g.18720235A>T | NCBI36 |
| NG_042860.1:g.5267T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.36+19T>A MANE Select | ENSP00000306788.7:n.36+19T>A | |
| ENST00000304414.11:c.36+19T>A | ENSP00000306788.7:n.36+19T>A | |
| ENST00000546206.6:c.-265T>A | ENSP00000440048.2:n.-265T>A | |
| ENST00000562234.2:c.36+19T>A | ENSP00000455341.2:n.36+19T>A | |
| ENST00000562819.5:c.36+19T>A | ENSP00000457372.1:n.36+19T>A | |
| ENST00000563861.5:c.36+19T>A | ENSP00000456596.1:n.36+19T>A | |
| ENST00000566391.1:n.142+19T>A | ||
| ENST00000567078.2:c.36+19T>A | ENSP00000454746.2:n.36+19T>A | |
| ENST00000567969.1:n.114+19T>A | ||
| ENST00000569976.5:n.118+19T>A | ||
| NM_015161.1:c.36+19T>A | NP_055976.1:n.36+19T>A | |
| NM_015161.2:c.36+19T>A | NP_055976.1:n.36+19T>A | |
| NM_015161.3:c.36+19T>A MANE Select | NP_055976.1:n.36+19T>A |