Linked Data
dbSNP Id:
rs530582905
gnomAD v2:
4-187000379-C-T
gnomAD v3:
4-186079225-C-T
gnomAD v4:
4-186079225-C-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.186079225C>T , CM000666.2:g.186079225C>T | GRCh38 |
| NC_000004.11:g.187000379C>T , CM000666.1:g.187000379C>T | GRCh37 |
| NC_000004.10:g.187237373C>T | NCBI36 |
| NG_007278.1:g.15071C>T , LRG_117:g.15071C>T |
Transcript Alleles
| HGVS | Amino-acid change | |
|---|---|---|
| ENST00000698351.1:c.633+194C>T | ENSP00000513674.1:n.633+194C>T | |
| ENST00000698352.1:c.*185+194C>T | ENSP00000513675.1:n.*185+194C>T | |
| ENST00000296795.8:c.633+194C>T MANE Select | ENSP00000296795.3:n.633+194C>T | |
| ENST00000296795.7:c.633+194C>T | ENSP00000296795.2:n.633+194C>T | |
| ENST00000513189.1:c.633+194C>T | ENSP00000423386.1:n.633+194C>T | |
| NM_003265.2:c.633+194C>T , LRG_117t1:c.633+194C>T | NP_003256.1:n.633+194C>T | |
| NM_003265.3:c.633+194C>T MANE Select | NP_003256.1:n.633+194C>T |