Linked Data
dbSNP Id:
rs2282885
gnomAD v2:
7-17345614-A-G
gnomAD v3:
7-17305990-A-G
gnomAD v4:
7-17305990-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000007.14:g.17305990A>G , CM000669.2:g.17305990A>G | GRCh38 |
| NC_000007.13:g.17345614A>G , CM000669.1:g.17345614A>G | GRCh37 |
| NC_000007.12:g.17312139A>G | NCBI36 |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000242057.9:c.66-3946A>G MANE Select | ENSP00000242057.4:n.66-3946A>G | |
| ENST00000637807.1:c.36-3946A>G | ENSP00000490530.1:n.36-3946A>G | |
| ENST00000642825.1:c.21-3946A>G | ENSP00000495987.1:n.21-3946A>G | |
| ENST00000242057.8:c.66-3946A>G | ENSP00000242057.4:n.66-3946A>G | |
| ENST00000463496.1:c.66-3946A>G | ENSP00000436466.1:n.66-3946A>G | |
| NM_001621.4:c.66-3946A>G | NP_001612.1:n.66-3946A>G | |
| NM_001621.5:c.66-3946A>G MANE Select | NP_001612.1:n.66-3946A>G |