Linked Data
dbSNP Id:
rs1282861449
gnomAD v2:
12-52910191-C-A
gnomAD v3:
12-52516407-C-A
gnomAD v4:
12-52516407-C-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.52516407C>A , CM000674.2:g.52516407C>A | GRCh38 |
| NC_000012.11:g.52910191C>A , CM000674.1:g.52910191C>A | GRCh37 |
| NC_000012.10:g.51196458C>A | NCBI36 |
| NG_008297.1:g.9053G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000252242.9:c.1439+230G>T MANE Select | ENSP00000252242.4:n.1439+230G>T | |
| ENST00000252242.8:c.1439+230G>T | ENSP00000252242.4:n.1439+230G>T | |
| ENST00000548409.5:c.561+230G>T | ||
| ENST00000549511.5:n.646+230G>T | ||
| ENST00000552629.5:n.1767G>T | ||
| NM_000424.3:c.1439+230G>T | NP_000415.2:n.1439+230G>T | |
| NM_000424.4:c.1439+230G>T MANE Select | NP_000415.2:n.1439+230G>T |