Linked Data
ClinVar Variation Id:
2796380
ClinVar RCV Id:
RCV003746844
dbSNP Id:
rs752378535
ExAC:
16:18812733 G / A
gnomAD v2:
16-18812733-G-A
gnomAD v4:
16-18801411-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000016.10:g.18801411G>A , CM000678.2:g.18801411G>A | GRCh38 |
| NC_000016.9:g.18812733G>A , CM000678.1:g.18812733G>A | GRCh37 |
| NC_000016.8:g.18720234G>A | NCBI36 |
| NG_042860.1:g.5268C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000304414.12:c.36+20C>T MANE Select | ENSP00000306788.7:n.36+20C>T | |
| ENST00000304414.11:c.36+20C>T | ENSP00000306788.7:n.36+20C>T | |
| ENST00000546206.6:c.-264C>T | ENSP00000440048.2:n.-264C>T | |
| ENST00000562234.2:c.36+20C>T | ENSP00000455341.2:n.36+20C>T | |
| ENST00000562819.5:c.36+20C>T | ENSP00000457372.1:n.36+20C>T | |
| ENST00000563861.5:c.36+20C>T | ENSP00000456596.1:n.36+20C>T | |
| ENST00000566391.1:n.142+20C>T | ||
| ENST00000567078.2:c.36+20C>T | ENSP00000454746.2:n.36+20C>T | |
| ENST00000567969.1:n.114+20C>T | ||
| ENST00000569976.5:n.118+20C>T | ||
| NM_015161.1:c.36+20C>T | NP_055976.1:n.36+20C>T | |
| NM_015161.2:c.36+20C>T | NP_055976.1:n.36+20C>T | |
| NM_015161.3:c.36+20C>T MANE Select | NP_055976.1:n.36+20C>T |