Linked Data
dbSNP Id:
rs1007851320
gnomAD v2:
12-52910375-C-T
gnomAD v3:
12-52516591-C-T
gnomAD v4:
12-52516591-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516591C>T , CM000674.2:g.52516591C>T | GRCh38 |
| NC_000012.11:g.52910375C>T , CM000674.1:g.52910375C>T | GRCh37 |
| NC_000012.10:g.51196642C>T | NCBI36 |
| NG_008297.1:g.8869G>A |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+46G>A MANE Select | ENSP00000252242.4:n.1439+46G>A | |
| ENST00000252242.8:c.1439+46G>A | ENSP00000252242.4:n.1439+46G>A | |
| ENST00000548409.5:c.561+46G>A | ||
| ENST00000549511.5:n.646+46G>A | ||
| ENST00000552629.5:n.1583G>A | ||
| NM_000424.3:c.1439+46G>A | NP_000415.2:n.1439+46G>A | |
| NM_000424.4:c.1439+46G>A MANE Select | NP_000415.2:n.1439+46G>A |