Linked Data
dbSNP Id:
rs759535446
ExAC:
3:186257333 G / A
gnomAD v2:
3-186257333-G-A
gnomAD v3:
3-186539544-G-A
gnomAD v4:
3-186539544-G-A
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000003.12:g.186539544G>A , CM000665.2:g.186539544G>A | GRCh38 |
| NC_000003.11:g.186257333G>A , CM000665.1:g.186257333G>A | GRCh37 |
| NC_000003.10:g.187740027G>A | NCBI36 |
| NG_009829.1:g.9835C>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000307944.6:c.75C>T MANE Select | ENSP00000312099.5:p.Cys25= | |
| ENST00000307944.5:c.75C>T | ENSP00000312099.5:p.Cys25= | |
| ENST00000392499.6:c.75C>T | ENSP00000376287.2:p.Cys25= | |
| ENST00000460288.1:n.977C>T | ||
| NM_017541.2:c.75C>T | NP_060011.1:p.Cys25= | |
| NM_017541.3:c.75C>T | NP_060011.1:p.Cys25= | |
| NM_017541.4:c.75C>T MANE Select | NP_060011.1:p.Cys25= |