Linked Data
ClinVar Variation Id:
288216
dbSNP Id:
rs148557097
ExAC:
11:46917754 C / A
gnomAD v2:
11-46917754-C-A
gnomAD v3:
11-46896203-C-A
gnomAD v4:
11-46896203-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000011.10:g.46896203C>A , CM000673.2:g.46896203C>A | GRCh38 |
| NC_000011.9:g.46917754C>A , CM000673.1:g.46917754C>A | GRCh37 |
| NC_000011.8:g.46874330C>A | NCBI36 |
| NG_021394.1:g.27420G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000378623.6:c.1048+7G>T MANE Select | ENSP00000367888.1:n.1048+7G>T | |
| ENST00000378623.5:c.1048+7G>T | ENSP00000367888.1:n.1048+7G>T | |
| NM_002334.3:c.1048+7G>T | NP_002325.2:n.1048+7G>T | |
| XM_011520102.1:c.1261+7G>T | XP_011518404.1:n.1261+7G>T | |
| XM_011520103.1:c.244+7G>T | XP_011518405.1:n.244+7G>T | |
| XM_011520103.2:c.244+7G>T | XP_011518405.1:n.244+7G>T | |
| XM_017017734.1:c.1048+7G>T | XP_016873223.1:n.1048+7G>T | |
| NM_002334.4:c.1048+7G>T MANE Select | NP_002325.2:n.1048+7G>T |