Linked Data
dbSNP Id:
rs1007332518
gnomAD v2:
7-98021127-A-C
gnomAD v3:
7-98391815-A-C
gnomAD v4:
7-98391815-A-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.98391815A>C , CM000669.2:g.98391815A>C | GRCh38 |
| NC_000007.13:g.98021127A>C , CM000669.1:g.98021127A>C | GRCh37 |
| NC_000007.12:g.97859063A>C | NCBI36 |
| NG_013090.1:g.14301T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000005260.9:c.51+8987T>G MANE Select | ENSP00000005260.8:n.51+8987T>G | |
| ENST00000005260.8:c.51+8987T>G | ENSP00000005260.8:n.51+8987T>G | |
| ENST00000462558.5:n.267+8987T>G | ||
| ENST00000479789.1:n.357+8166T>G | ||
| NM_018842.4:c.51+8987T>G | NP_061330.2:n.51+8987T>G | |
| NM_018842.5:c.51+8987T>G MANE Select | NP_061330.2:n.51+8987T>G |