Linked Data
ClinVar Variation Id:
283884
dbSNP Id:
rs886042729
gnomAD v2:
12-76741941-C-A
gnomAD v4:
12-76348161-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.76348161C>A , CM000674.2:g.76348161C>A | GRCh38 |
| NC_000012.11:g.76741941C>A , CM000674.1:g.76741941C>A | GRCh37 |
| NC_000012.10:g.75266072C>A | NCBI36 |
| NG_016357.1:g.5282G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000650064.2:c.197+1G>T MANE Select | ENSP00000497413.1:n.197+1G>T | |
| ENST00000393262.3:c.197+1G>T | ENSP00000376946.3:n.197+1G>T | |
| NM_024685.3:c.197+1G>T | NP_078961.3:n.197+1G>T | |
| NM_024685.4:c.197+1G>T MANE Select | NP_078961.3:n.197+1G>T |