Linked Data
ClinVar Variation Id:
287486
dbSNP Id:
rs115821982
ExAC:
2:112656392 G / A
gnomAD v2:
2-112656392-G-A
gnomAD v3:
2-111898815-G-A
gnomAD v4:
2-111898815-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000002.12:g.111898815G>A , CM000664.2:g.111898815G>A | GRCh38 |
| NC_000002.11:g.112656392G>A , CM000664.1:g.112656392G>A | GRCh37 |
| NC_000002.10:g.112372863G>A | NCBI36 |
| NG_011607.1:g.5202G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000295408.9:c.61+19G>A MANE Select | ENSP00000295408.4:n.61+19G>A | |
| ENST00000295408.8:c.61+19G>A | ENSP00000295408.4:n.61+19G>A | |
| ENST00000409780.5:c.-47+19G>A | ENSP00000387277.1:n.-47+19G>A | |
| ENST00000421804.6:c.61+19G>A | ENSP00000389152.2:n.61+19G>A | |
| ENST00000439966.5:c.61+19G>A | ENSP00000402129.1:n.61+19G>A | |
| ENST00000616902.4:c.-1155+19G>A | ENSP00000482824.1:n.-1155+19G>A | |
| NM_006343.2:c.61+19G>A | NP_006334.2:n.61+19G>A | |
| XM_005263565.3:c.61+19G>A | XP_005263622.1:n.61+19G>A | |
| XM_005263568.3:c.61+19G>A | XP_005263625.1:n.61+19G>A | |
| XM_005263565.4:c.61+19G>A | XP_005263622.1:n.61+19G>A | |
| XM_005263568.4:c.61+19G>A | XP_005263625.1:n.61+19G>A | |
| XM_017003165.2:c.-1207+19G>A | XP_016858654.1:n.-1207+19G>A | |
| NM_006343.3:c.61+19G>A MANE Select | NP_006334.2:n.61+19G>A |