Linked Data
ClinVar Variation Id:
210965
dbSNP Id:
rs797045567
gnomAD v2:
9-37782037-C-T
gnomAD v4:
9-37782040-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000009.12:g.37782040C>T , CM000671.2:g.37782040C>T | GRCh38 |
| NC_000009.11:g.37782037C>T , CM000671.1:g.37782037C>T | GRCh37 |
| NC_000009.10:g.37772037C>T | NCBI36 |
| NG_032780.1:g.8053G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000327304.10:c.572G>A MANE Select | ENSP00000323046.4:p.Gly191Asp | |
| ENST00000465860.6:n.273G>A | ||
| ENST00000678095.1:c.81-1160G>A | ENSP00000503205.1:n.81-1160G>A | |
| ENST00000678588.1:n.1249G>A | ||
| ENST00000679059.1:c.475-1160G>A | ENSP00000503947.1:n.475-1160G>A | |
| ENST00000327304.9:c.572G>A | ENSP00000323046.4:p.Gly191Asp | |
| ENST00000396521.3:c.475-1160G>A | ENSP00000379775.3:n.475-1160G>A | |
| ENST00000465229.5:c.475-1160G>A | ENSP00000418422.1:n.475-1160G>A | |
| ENST00000465860.5:n.273G>A | ||
| ENST00000482614.5:n.333G>A | ||
| ENST00000489414.5:n.291G>A | ||
| ENST00000490516.5:n.481-1160G>A | ||
| ENST00000540557.1:c.*910+1874G>A | ENSP00000457548.1:n.*910+1874G>A | |
| NM_001002269.2:c.475-1160G>A | NP_001002269.1:n.475-1160G>A | |
| NM_016042.3:c.572G>A | NP_057126.2:p.Gly191Asp | |
| NM_016042.4:c.572G>A MANE Select | NP_057126.2:p.Gly191Asp |