Linked Data
ClinVar Variation Id:
340753
dbSNP Id:
rs886057245
gnomAD v2:
22-18561380-C-T
gnomAD v4:
22-18078614-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000022.11:g.18078614C>T , CM000684.2:g.18078614C>T | GRCh38 |
| NC_000022.10:g.18561380C>T , CM000684.1:g.18561380C>T | GRCh37 |
| NC_000022.9:g.16941380C>T | NCBI36 |
| NG_008339.1:g.5695C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000399744.8:c.230+8C>T MANE Select | ENSP00000382648.4:n.230+8C>T | |
| ENST00000474897.6:c.230+8C>T | ENSP00000434235.2:n.230+8C>T | |
| ENST00000329627.11:c.230+8C>T | ENSP00000331106.5:n.230+8C>T | |
| ENST00000399744.7:c.230+8C>T | ENSP00000382648.3:n.230+8C>T | |
| ENST00000428061.2:c.230+8C>T | ENSP00000412441.2:n.230+8C>T | |
| ENST00000474897.5:c.230+8C>T | ENSP00000434235.1:n.230+8C>T | |
| ENST00000610387.4:c.230+8C>T | ENSP00000482091.1:n.230+8C>T | |
| NM_001127649.2:c.230+8C>T | NP_001121121.1:n.230+8C>T | |
| NM_001199319.1:c.230+8C>T | NP_001186248.1:n.230+8C>T | |
| NM_017929.5:c.230+8C>T | NP_060399.1:n.230+8C>T | |
| NM_001127649.3:c.230+8C>T MANE Select | NP_001121121.1:n.230+8C>T | |
| NM_001199319.2:c.230+8C>T | NP_001186248.1:n.230+8C>T | |
| NM_017929.6:c.230+8C>T | NP_060399.1:n.230+8C>T |