Linked Data
dbSNP Id:
rs1938612988
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516563T>A , CM000674.2:g.52516563T>A | GRCh38 |
| NC_000012.11:g.52910347T>A , CM000674.1:g.52910347T>A | GRCh37 |
| NC_000012.10:g.51196614T>A | NCBI36 |
| NG_008297.1:g.8897A>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+74A>T MANE Select | ENSP00000252242.4:n.1439+74A>T | |
| ENST00000252242.8:c.1439+74A>T | ENSP00000252242.4:n.1439+74A>T | |
| ENST00000548409.5:c.561+74A>T | ||
| ENST00000549511.5:n.646+74A>T | ||
| ENST00000552629.5:n.1611A>T | ||
| NM_000424.3:c.1439+74A>T | NP_000415.2:n.1439+74A>T | |
| NM_000424.4:c.1439+74A>T MANE Select | NP_000415.2:n.1439+74A>T |