Linked Data
dbSNP Id:
rs2286580
gnomAD v2:
12-4869928-A-G
gnomAD v3:
12-4760762-A-G
gnomAD v4:
12-4760762-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000012.12:g.4760762A>G , CM000674.2:g.4760762A>G | GRCh38 |
| NC_000012.11:g.4869928A>G , CM000674.1:g.4869928A>G | GRCh37 |
| NC_000012.10:g.4740189A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000252318.7:c.1174-196A>G MANE Select | ENSP00000252318.2:n.1174-196A>G | |
| ENST00000648836.1:c.964-196A>G | ENSP00000497305.1:n.964-196A>G | |
| ENST00000648865.1:n.26-196A>G | ||
| ENST00000252318.6:c.1174-196A>G | ENSP00000252318.2:n.1174-196A>G | |
| NM_017417.1:c.1174-196A>G | NP_059113.1:n.1174-196A>G | |
| NM_017417.2:c.1174-196A>G MANE Select | NP_059113.1:n.1174-196A>G |