Linked Data
ClinVar Variation Id:
160152
dbSNP Id:
rs199717430
ExAC:
12:49580384 G / A
gnomAD v2:
12-49580384-G-A
gnomAD v3:
12-49186601-G-A
gnomAD v4:
12-49186601-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.49186601G>A , CM000674.2:g.49186601G>A | GRCh38 |
| NC_000012.11:g.49580384G>A , CM000674.1:g.49580384G>A | GRCh37 |
| NC_000012.10:g.47866651G>A | NCBI36 |
| NG_008966.1:g.7478C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000301071.12:c.226+10C>T MANE Select | ENSP00000301071.7:n.226+10C>T | |
| ENST00000547939.6:c.121+10C>T | ENSP00000450268.2:n.121+10C>T | |
| ENST00000550767.6:c.121+10C>T | ENSP00000446637.1:n.121+10C>T | |
| ENST00000550811.2:n.1259+10C>T | ||
| ENST00000552924.2:c.121+10C>T | ENSP00000448725.2:n.121+10C>T | |
| ENST00000679733.1:c.236C>T | ENSP00000505459.1:p.Thr79Ile | |
| ENST00000295766.9:c.226+10C>T | ENSP00000439020.2:n.226+10C>T | |
| ENST00000301071.11:c.226+10C>T | ENSP00000301071.7:n.226+10C>T | |
| ENST00000546918.1:c.236C>T | ENSP00000446613.1:p.Thr79Ile | |
| ENST00000547939.5:c.121+10C>T | ENSP00000450268.1:n.121+10C>T | |
| ENST00000548363.1:n.230+10C>T | ||
| ENST00000550254.1:n.258C>T | ||
| ENST00000550767.5:c.121+10C>T | ENSP00000446637.1:n.121+10C>T | |
| ENST00000552924.1:c.121+10C>T | ENSP00000448725.1:n.121+10C>T | |
| NM_001270399.1:c.226+10C>T | NP_001257328.1:n.226+10C>T | |
| NM_001270400.1:c.121+10C>T | NP_001257329.1:n.121+10C>T | |
| NM_006009.3:c.226+10C>T | NP_006000.2:n.226+10C>T | |
| NM_006009.4:c.226+10C>T MANE Select | NP_006000.2:n.226+10C>T | |
| NM_001270399.2:c.226+10C>T | NP_001257328.1:n.226+10C>T | |
| NM_001270400.2:c.121+10C>T | NP_001257329.1:n.121+10C>T |