Linked Data
ClinVar Variation Id:
366575
ClinVar RCV Id:
RCV000339704
dbSNP Id:
rs776476617
ExAC:
9:32552498 G / A
gnomAD v2:
9-32552498-G-A
gnomAD v3:
9-32552500-G-A
gnomAD v4:
9-32552500-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.32552500G>A , CM000671.2:g.32552500G>A | GRCh38 |
| NC_000009.11:g.32552498G>A , CM000671.1:g.32552498G>A | GRCh37 |
| NC_000009.10:g.32542498G>A | NCBI36 |
| NG_011511.1:g.25685C>T | |
| NG_017050.1:g.5125C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000450093.3:c.45+21G>A (SMIM27) | ENSP00000490727.2:n.45+21G>A | |
| ENST00000692500.1:c.45+21G>A (SMIM27) MANE Select | ENSP00000508648.1:n.45+21G>A | |
| ENST00000360538.7:c.-64C>T (TOPORS) MANE Select | ENSP00000353735.2:n.-64C>T | |
| ENST00000425533.1:n.132+21G>A (SMIM27) | ||
| ENST00000450093.2:c.45+21G>A (SMIM27) | ENSP00000490727.1:n.45+21G>A | |
| ENST00000451672.2:c.45+21G>A (SMIM27) | ENSP00000414891.2:n.45+21G>A | |
| ENST00000453396.5:n.796+21G>A (SMIM27) | ||
| ENST00000644531.1:c.66G>A (SMIM27) | ENSP00000493510.1:p.Gly22= | |
| ENST00000680198.1:c.-64C>T | ENSP00000505143.1:n.-64C>T | |
| ENST00000681750.1:c.-411C>T | ENSP00000506413.1:n.-411C>T | |
| ENST00000360538.6:c.-64C>T (TOPORS) | ENSP00000353735.2:n.-64C>T | |
| ENST00000379858.1:c.-64C>T (TOPORS) | ENSP00000369187.1:n.-64C>T | |
| NM_001195622.1:c.-64C>T (TOPORS) | NP_001182551.1:n.-64C>T | |
| NM_005802.4:c.-64C>T (TOPORS) | NP_005793.2:n.-64C>T | |
| NR_033991.1:n.796+21G>A (SMIM27) | ||
| NR_033992.2:n.337+21G>A (SMIM27) | ||
| NR_102376.1:n.246+21G>A (SMIM27) | ||
| NR_102377.1:n.246+21G>A (SMIM27) | ||
| NM_001349118.1:c.45+21G>A (SMIM27) | NP_001336047.1:n.45+21G>A | |
| NM_001349119.1:c.45+21G>A (SMIM27) | NP_001336048.1:n.45+21G>A | |
| NR_146061.1:n.246+21G>A (SMIM27) | ||
| NR_146063.1:n.246+21G>A (SMIM27) | ||
| XM_024447368.1:c.451+21G>A (SMIM27) | XP_024303136.1:n.451+21G>A | |
| NM_005802.5:c.-64C>T (TOPORS) MANE Select | NP_005793.2:n.-64C>T | |
| NM_001349119.2:c.45+21G>A (SMIM27) | NP_001336048.1:n.45+21G>A | |
| NM_001195622.2:c.-64C>T (TOPORS) | NP_001182551.1:n.-64C>T | |
| NM_001387564.1:c.45+21G>A (SMIM27) MANE Select | NP_001374493.1:n.45+21G>A |