Linked Data
dbSNP Id:
rs1358152825
gnomAD v2:
1-229568857-G-A
gnomAD v3:
1-229433110-G-A
gnomAD v4:
1-229433110-G-A
COSMIC:
COSM905246
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000001.11:g.229433110G>A , CM000663.2:g.229433110G>A | GRCh38 |
| NC_000001.10:g.229568857G>A , CM000663.1:g.229568857G>A | GRCh37 |
| NC_000001.9:g.227635480G>A | NCBI36 |
| NG_006672.1:g.5987C>T , LRG_429:g.5987C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000366683.4:c.6C>T | ENSP00000355644.4:p.Cys2= | |
| ENST00000684723.1:c.-6-230C>T | ENSP00000508084.1:n.-6-230C>T | |
| ENST00000366683.3:c.6C>T | ENSP00000355644.3:p.Cys2= | |
| ENST00000366684.7:c.6C>T MANE Select | ENSP00000355645.3:p.Cys2= | |
| NM_001100.3:c.6C>T , LRG_429t1:c.6C>T | NP_001091.1:p.Cys2= | |
| NM_001100.4:c.6C>T MANE Select | NP_001091.1:p.Cys2= |