Linked Data
ClinVar Variation Id:
2996298
ClinVar RCV Id:
RCV003856449
dbSNP Id:
rs560035728
ExAC:
12:45742117 T / A
gnomAD v2:
12-45742117-T-A
gnomAD v3:
12-45348334-T-A
gnomAD v4:
12-45348334-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.45348334T>A , CM000674.2:g.45348334T>A | GRCh38 |
| NC_000012.11:g.45742117T>A , CM000674.1:g.45742117T>A | GRCh37 |
| NC_000012.10:g.44028384T>A | NCBI36 |
| NG_028220.1:g.137348T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000320560.13:c.633+19T>A MANE Select | ENSP00000320087.8:n.633+19T>A | |
| ENST00000679426.1:c.600+19T>A | ENSP00000506600.1:n.600+19T>A | |
| ENST00000679761.1:c.633+19T>A | ENSP00000505361.1:n.633+19T>A | |
| ENST00000680201.1:c.633+19T>A | ENSP00000506222.1:n.633+19T>A | |
| ENST00000680371.1:c.633+19T>A | ENSP00000506392.1:n.633+19T>A | |
| ENST00000680498.1:c.216+19T>A | ENSP00000506613.1:n.216+19T>A | |
| ENST00000681156.1:c.633+19T>A | ENSP00000506069.1:n.633+19T>A | |
| ENST00000681817.1:c.216+19T>A | ENSP00000506683.1:n.216+19T>A | |
| ENST00000320560.12:c.633+19T>A | ENSP00000320087.8:n.633+19T>A | |
| ENST00000423947.7:c.696+19T>A | ENSP00000409126.3:n.696+19T>A | |
| ENST00000425752.6:c.633+19T>A | ENSP00000391417.2:n.633+19T>A | |
| ENST00000426898.2:n.888+19T>A | ||
| ENST00000441606.2:c.579+19T>A | ENSP00000413137.2:n.579+19T>A | |
| NM_001025356.2:c.633+19T>A | NP_001020527.2:n.633+19T>A | |
| NM_001142678.1:c.579+19T>A | NP_001136150.1:n.579+19T>A | |
| NM_001142679.1:c.633+19T>A | NP_001136151.1:n.633+19T>A | |
| NM_001204803.1:c.696+19T>A | NP_001191732.1:n.696+19T>A | |
| XM_005268706.3:c.600+19T>A | XP_005268763.1:n.600+19T>A | |
| XM_005268707.2:c.534+19T>A | XP_005268764.1:n.534+19T>A | |
| XM_011538024.1:c.696+19T>A | XP_011536326.1:n.696+19T>A | |
| XM_005268706.5:c.600+19T>A | XP_005268763.1:n.600+19T>A | |
| XM_005268707.4:c.534+19T>A | XP_005268764.1:n.534+19T>A | |
| NM_001025356.3:c.633+19T>A MANE Select | NP_001020527.2:n.633+19T>A | |
| NM_001142678.2:c.579+19T>A | NP_001136150.1:n.579+19T>A | |
| NM_001142679.2:c.633+19T>A | NP_001136151.1:n.633+19T>A | |
| NM_001204803.2:c.696+19T>A | NP_001191732.1:n.696+19T>A |