Linked Data
dbSNP Id:
rs1276130931
gnomAD v2:
7-94031059-A-G
gnomAD v3:
7-94401747-A-G
gnomAD v4:
7-94401747-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401747A>G , CM000669.2:g.94401747A>G | GRCh38 |
| NC_000007.13:g.94031059A>G , CM000669.1:g.94031059A>G | GRCh37 |
| NC_000007.12:g.93868995A>G | NCBI36 |
| NG_007405.1:g.12187A>G , LRG_2:g.12187A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+127A>G MANE Select | ENSP00000297268.6:n.279+127A>G | |
| ENST00000297268.10:c.279+127A>G | ENSP00000297268.6:n.279+127A>G | |
| ENST00000620463.1:c.273+127A>G | ENSP00000477719.1:n.273+127A>G | |
| NM_000089.3:c.279+127A>G , LRG_2t1:c.279+127A>G | NP_000080.2:n.279+127A>G | |
| NM_000089.4:c.279+127A>G MANE Select | NP_000080.2:n.279+127A>G |