Linked Data
dbSNP Id:
rs2292657
gnomAD v2:
12-57859932-G-A
gnomAD v3:
12-57466149-G-A
gnomAD v4:
12-57466149-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.57466149G>A , CM000674.2:g.57466149G>A | GRCh38 |
| NC_000012.11:g.57859932G>A , CM000674.1:g.57859932G>A | GRCh37 |
| NC_000012.10:g.56146199G>A | NCBI36 |
| NG_029564.1:g.11015G>A |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000228682.7:c.763-91G>A MANE Select | ENSP00000228682.2:n.763-91G>A | |
| ENST00000228682.6:c.763-91G>A | ENSP00000228682.2:n.763-91G>A | |
| ENST00000528467.1:c.640-91G>A | ENSP00000434408.1:n.640-91G>A | |
| ENST00000532291.5:c.379-91G>A | ENSP00000436671.1:n.379-91G>A | |
| ENST00000543426.5:c.379-91G>A | ENSP00000437607.1:n.379-91G>A | |
| ENST00000546141.5:c.640-91G>A | ENSP00000441006.1:n.640-91G>A | |
| NM_001160045.1:c.379-91G>A | NP_001153517.1:n.379-91G>A | |
| NM_001167609.1:c.640-91G>A | NP_001161081.1:n.640-91G>A | |
| NM_005269.2:c.763-91G>A | NP_005260.1:n.763-91G>A | |
| XM_005268799.2:c.379-91G>A | XP_005268856.1:n.379-91G>A | |
| XM_011538189.1:c.763-91G>A | XP_011536491.1:n.763-91G>A | |
| XM_011538190.1:c.763-91G>A | XP_011536492.1:n.763-91G>A | |
| XM_011538189.2:c.763-91G>A | XP_011536491.1:n.763-91G>A | |
| XM_011538190.2:c.763-91G>A | XP_011536492.1:n.763-91G>A | |
| NM_005269.3:c.763-91G>A MANE Select | NP_005260.1:n.763-91G>A | |
| NM_001160045.2:c.379-91G>A | NP_001153517.1:n.379-91G>A | |
| NM_001167609.2:c.640-91G>A | NP_001161081.1:n.640-91G>A |