Linked Data
dbSNP Id:
rs777648448
ExAC:
7:94055809 A / G
gnomAD v2:
7-94055809-A-G
gnomAD v4:
7-94426497-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94426497A>G , CM000669.2:g.94426497A>G | GRCh38 |
| NC_000007.13:g.94055809A>G , CM000669.1:g.94055809A>G | GRCh37 |
| NC_000007.12:g.93893745A>G | NCBI36 |
| NG_007405.1:g.36937A>G , LRG_2:g.36937A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.3072A>G MANE Select | ENSP00000297268.6:p.Gly1024= | |
| ENST00000297268.10:c.3072A>G | ENSP00000297268.6:p.Gly1024= | |
| ENST00000478215.1:n.631A>G | ||
| ENST00000481570.5:n.3045A>G | ||
| ENST00000620463.1:c.3066A>G | ENSP00000477719.1:p.Gly1022= | |
| NM_000089.3:c.3072A>G , LRG_2t1:c.3072A>G | NP_000080.2:p.Gly1024= | |
| NM_000089.4:c.3072A>G MANE Select | NP_000080.2:p.Gly1024= |