Linked Data
dbSNP Id:
rs1335463401
gnomAD v2:
7-94030981-T-G
gnomAD v3:
7-94401669-T-G
gnomAD v4:
7-94401669-T-G
COSMIC:
COSN2244874
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.94401669T>G , CM000669.2:g.94401669T>G | GRCh38 |
| NC_000007.13:g.94030981T>G , CM000669.1:g.94030981T>G | GRCh37 |
| NC_000007.12:g.93868917T>G | NCBI36 |
| NG_007405.1:g.12109T>G , LRG_2:g.12109T>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000297268.11:c.279+49T>G MANE Select | ENSP00000297268.6:n.279+49T>G | |
| ENST00000297268.10:c.279+49T>G | ENSP00000297268.6:n.279+49T>G | |
| ENST00000620463.1:c.273+49T>G | ENSP00000477719.1:n.273+49T>G | |
| NM_000089.3:c.279+49T>G , LRG_2t1:c.279+49T>G | NP_000080.2:n.279+49T>G | |
| NM_000089.4:c.279+49T>G MANE Select | NP_000080.2:n.279+49T>G |