Linked Data
dbSNP Id:
rs546227093
gnomAD v2:
12-66343414-T-A
gnomAD v3:
12-65949634-T-A
gnomAD v4:
12-65949634-T-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.65949634T>A , CM000674.2:g.65949634T>A | GRCh38 |
| NC_000012.11:g.66343414T>A , CM000674.1:g.66343414T>A | GRCh37 |
| NC_000012.10:g.64629681T>A | NCBI36 |
| NG_016296.1:g.130175T>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000403681.7:c.250-1749T>A MANE Select | ENSP00000384026.2:n.250-1749T>A | |
| ENST00000393577.7:c.250-1749T>A | ENSP00000377205.3:n.250-1749T>A | |
| ENST00000403681.6:c.250-1749T>A | ENSP00000384026.2:n.250-1749T>A | |
| ENST00000539662.1:c.287-1749T>A | ENSP00000440919.1:n.287-1749T>A | |
| ENST00000541363.5:c.250-1749T>A | ENSP00000439317.1:n.250-1749T>A | |
| NM_001300918.1:c.250-1749T>A | NP_001287847.1:n.250-1749T>A | |
| NM_003483.4:c.250-1749T>A | NP_003474.1:n.250-1749T>A | |
| NM_003483.6:c.250-1749T>A MANE Select | NP_003474.1:n.250-1749T>A |