Linked Data
dbSNP Id:
rs10025405
gnomAD v2:
4-187006806-A-G
gnomAD v3:
4-186085652-A-G
gnomAD v4:
4-186085652-A-G
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186085652A>G , CM000666.2:g.186085652A>G | GRCh38 |
| NC_000004.11:g.187006806A>G , CM000666.1:g.187006806A>G | GRCh37 |
| NC_000004.10:g.187243800A>G | NCBI36 |
| NG_007278.1:g.21498A>G , LRG_117:g.21498A>G |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698352.1:c.*3046A>G | ENSP00000513675.1:n.*3046A>G | |
| ENST00000698353.1:n.3369A>G | ||
| ENST00000698354.1:c.*779A>G | ENSP00000513676.1:n.*779A>G | |
| ENST00000296795.8:c.*779A>G MANE Select | ENSP00000296795.3:n.*779A>G | |
| ENST00000296795.7:c.*779A>G | ENSP00000296795.2:n.*779A>G | |
| NM_003265.3:c.*779A>G MANE Select | NP_003256.1:n.*779A>G |